← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: X-47199522-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47199522&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 47199522,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001440807.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "NM_003334.4",
"protein_id": "NP_003325.2",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": "ENST00000335972.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003334.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000335972.11",
"protein_id": "ENSP00000338413.6",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": "NM_003334.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335972.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000377351.8",
"protein_id": "ENSP00000366568.4",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 3466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377351.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880189.1",
"protein_id": "ENSP00000550248.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1103,
"cds_start": 388,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880189.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880195.1",
"protein_id": "ENSP00000550254.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1086,
"cds_start": 388,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880195.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.430G>T",
"hgvs_p": "p.Val144Leu",
"transcript": "NM_001440807.1",
"protein_id": "NP_001427736.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1072,
"cds_start": 430,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440807.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940362.1",
"protein_id": "ENSP00000610421.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1071,
"cds_start": 388,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940362.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940379.1",
"protein_id": "ENSP00000610438.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1071,
"cds_start": 388,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940379.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.406G>T",
"hgvs_p": "p.Val136Leu",
"transcript": "NM_001440809.1",
"protein_id": "NP_001427738.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1064,
"cds_start": 406,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 3650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440809.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.406G>T",
"hgvs_p": "p.Val136Leu",
"transcript": "NM_001440810.1",
"protein_id": "NP_001427739.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 1064,
"cds_start": 406,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440810.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940386.1",
"protein_id": "ENSP00000610445.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1060,
"cds_start": 388,
"cds_end": null,
"cds_length": 3183,
"cdna_start": 568,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940386.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "NM_001440811.1",
"protein_id": "NP_001427740.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 3686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440811.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "NM_001440812.1",
"protein_id": "NP_001427741.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440812.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "NM_153280.3",
"protein_id": "NP_695012.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153280.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880170.1",
"protein_id": "ENSP00000550229.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 3428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880170.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880171.1",
"protein_id": "ENSP00000550230.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 565,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880171.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880172.1",
"protein_id": "ENSP00000550231.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880172.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880173.1",
"protein_id": "ENSP00000550232.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 3496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880173.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880174.1",
"protein_id": "ENSP00000550233.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 3477,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880174.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880175.1",
"protein_id": "ENSP00000550234.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 3645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880175.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880176.1",
"protein_id": "ENSP00000550235.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 571,
"cdna_end": null,
"cdna_length": 3559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880176.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880178.1",
"protein_id": "ENSP00000550237.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880178.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880179.1",
"protein_id": "ENSP00000550238.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880179.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880180.1",
"protein_id": "ENSP00000550239.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 3676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880180.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880181.1",
"protein_id": "ENSP00000550240.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 3923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880181.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880182.1",
"protein_id": "ENSP00000550241.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880182.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880183.1",
"protein_id": "ENSP00000550242.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 437,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880183.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880185.1",
"protein_id": "ENSP00000550244.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880185.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880186.1",
"protein_id": "ENSP00000550245.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 3726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880186.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880187.1",
"protein_id": "ENSP00000550246.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880187.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880190.1",
"protein_id": "ENSP00000550249.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 3643,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880190.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880191.1",
"protein_id": "ENSP00000550250.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880191.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880193.1",
"protein_id": "ENSP00000550252.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 3893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880193.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880196.1",
"protein_id": "ENSP00000550255.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 783,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880196.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880197.1",
"protein_id": "ENSP00000550256.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880197.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880198.1",
"protein_id": "ENSP00000550257.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2626,
"cdna_end": null,
"cdna_length": 5616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880198.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880199.1",
"protein_id": "ENSP00000550258.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 3605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880199.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940367.1",
"protein_id": "ENSP00000610426.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940367.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940368.1",
"protein_id": "ENSP00000610427.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 3452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940368.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940369.1",
"protein_id": "ENSP00000610428.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940369.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940371.1",
"protein_id": "ENSP00000610430.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940371.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940372.1",
"protein_id": "ENSP00000610431.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940372.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940373.1",
"protein_id": "ENSP00000610432.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940373.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940374.1",
"protein_id": "ENSP00000610433.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940374.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940375.1",
"protein_id": "ENSP00000610434.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940375.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940377.1",
"protein_id": "ENSP00000610436.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 728,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940377.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940380.1",
"protein_id": "ENSP00000610439.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940380.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940381.1",
"protein_id": "ENSP00000610440.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940381.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940382.1",
"protein_id": "ENSP00000610441.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 3830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940382.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940383.1",
"protein_id": "ENSP00000610442.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 3076,
"cdna_end": null,
"cdna_length": 6064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940383.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940384.1",
"protein_id": "ENSP00000610443.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940384.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940385.1",
"protein_id": "ENSP00000610444.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940385.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940387.1",
"protein_id": "ENSP00000610446.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940387.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940388.1",
"protein_id": "ENSP00000610447.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940388.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954377.1",
"protein_id": "ENSP00000624436.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954377.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954378.1",
"protein_id": "ENSP00000624437.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 593,
"cdna_end": null,
"cdna_length": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954378.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954379.1",
"protein_id": "ENSP00000624438.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 3597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954379.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954380.1",
"protein_id": "ENSP00000624439.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954380.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954382.1",
"protein_id": "ENSP00000624441.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 3740,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954382.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954383.1",
"protein_id": "ENSP00000624442.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954383.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954384.1",
"protein_id": "ENSP00000624443.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 3762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954384.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954386.1",
"protein_id": "ENSP00000624445.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954386.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954387.1",
"protein_id": "ENSP00000624446.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954387.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954388.1",
"protein_id": "ENSP00000624447.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954388.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880188.1",
"protein_id": "ENSP00000550247.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1057,
"cds_start": 388,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880188.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940364.1",
"protein_id": "ENSP00000610423.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1057,
"cds_start": 388,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 3565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940364.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954381.1",
"protein_id": "ENSP00000624440.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1057,
"cds_start": 388,
"cds_end": null,
"cds_length": 3174,
"cdna_start": 685,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954381.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940389.1",
"protein_id": "ENSP00000610448.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1056,
"cds_start": 388,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940389.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000954376.1",
"protein_id": "ENSP00000624435.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1056,
"cds_start": 388,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954376.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940363.1",
"protein_id": "ENSP00000610422.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1023,
"cds_start": 388,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940363.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940376.1",
"protein_id": "ENSP00000610435.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1023,
"cds_start": 388,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940376.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880177.1",
"protein_id": "ENSP00000550236.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1020,
"cds_start": 388,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880177.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880194.1",
"protein_id": "ENSP00000550253.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1020,
"cds_start": 388,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880194.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940366.1",
"protein_id": "ENSP00000610425.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1020,
"cds_start": 388,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940366.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880192.1",
"protein_id": "ENSP00000550251.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1009,
"cds_start": 388,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 3425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880192.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.219G>T",
"hgvs_p": "p.Arg73Ser",
"transcript": "ENST00000940370.1",
"protein_id": "ENSP00000610429.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 966,
"cds_start": 219,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940370.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.219G>T",
"hgvs_p": "p.Arg73Ser",
"transcript": "ENST00000954385.1",
"protein_id": "ENSP00000624444.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 966,
"cds_start": 219,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 415,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954385.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000880184.1",
"protein_id": "ENSP00000550243.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 937,
"cds_start": 388,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880184.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940365.1",
"protein_id": "ENSP00000610424.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 937,
"cds_start": 388,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940365.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.430G>T",
"hgvs_p": "p.Val144Leu",
"transcript": "ENST00000442035.5",
"protein_id": "ENSP00000389583.1",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 283,
"cds_start": 430,
"cds_end": null,
"cds_length": 853,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442035.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000940378.1",
"protein_id": "ENSP00000610437.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 272,
"cds_start": 388,
"cds_end": null,
"cds_length": 819,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 1261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940378.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "ENST00000412206.5",
"protein_id": "ENSP00000415033.1",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 269,
"cds_start": 388,
"cds_end": null,
"cds_length": 812,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412206.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Val181Leu",
"transcript": "ENST00000451702.2",
"protein_id": "ENSP00000401101.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 233,
"cds_start": 541,
"cds_end": null,
"cds_length": 702,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451702.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Val181Leu",
"transcript": "ENST00000457753.5",
"protein_id": "ENSP00000404796.1",
"transcript_support_level": 5,
"aa_start": 181,
"aa_end": null,
"aa_length": 194,
"cds_start": 541,
"cds_end": null,
"cds_length": 585,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 809,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457753.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.430G>T",
"hgvs_p": "p.Val144Leu",
"transcript": "ENST00000427561.5",
"protein_id": "ENSP00000397816.1",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 172,
"cds_start": 430,
"cds_end": null,
"cds_length": 521,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427561.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Val181Leu",
"transcript": "XM_017029777.2",
"protein_id": "XP_016885266.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1109,
"cds_start": 541,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 4915,
"cdna_end": null,
"cdna_length": 7903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029777.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.541G>T",
"hgvs_p": "p.Val181Leu",
"transcript": "XM_047442420.1",
"protein_id": "XP_047298376.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1109,
"cds_start": 541,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 4981,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442420.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.472G>T",
"hgvs_p": "p.Val158Leu",
"transcript": "XM_017029778.3",
"protein_id": "XP_016885267.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1086,
"cds_start": 472,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 2880,
"cdna_end": null,
"cdna_length": 5868,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029778.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.469G>T",
"hgvs_p": "p.Val157Leu",
"transcript": "XM_047442421.1",
"protein_id": "XP_047298377.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1085,
"cds_start": 469,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442421.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.469G>T",
"hgvs_p": "p.Val157Leu",
"transcript": "XM_047442422.1",
"protein_id": "XP_047298378.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 1085,
"cds_start": 469,
"cds_end": null,
"cds_length": 3258,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 3694,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442422.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "XM_017029780.2",
"protein_id": "XP_016885269.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 2833,
"cdna_end": null,
"cdna_length": 5821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029780.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "XM_047442424.1",
"protein_id": "XP_047298380.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442424.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"hgvs_c": "c.388G>T",
"hgvs_p": "p.Val130Leu",
"transcript": "XM_047442425.1",
"protein_id": "XP_047298381.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 1058,
"cds_start": 388,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 3423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442425.1"
}
],
"gene_symbol": "UBA1",
"gene_hgnc_id": 12469,
"dbsnp": "rs782523969",
"frequency_reference_population": 9.105735e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.10573e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.37640249729156494,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.103,
"revel_prediction": "Benign",
"alphamissense_score": 0.2597,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.798,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001440807.1",
"gene_symbol": "UBA1",
"hgnc_id": 12469,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown",
"hgvs_c": "c.430G>T",
"hgvs_p": "p.Val144Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}