← 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-47211125-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=47211125&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 19,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "UBA1",
"hgnc_id": 12469,
"hgvs_c": "c.2406C>T",
"hgvs_p": "p.Ala802Ala",
"inheritance_mode": "XL,Unknown",
"pathogenic_score": 0,
"score": -19,
"transcript": "NM_001440807.1",
"verdict": "Benign"
},
{
"benign_score": 18,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC105373194",
"hgnc_id": null,
"hgvs_c": "n.278-5775G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -18,
"transcript": "XR_949047.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -19,
"allele_count_reference_population": 1181,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "X",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Inborn genetic diseases,Infantile-onset X-linked spinal muscular atrophy,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4000000059604645,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_003334.4",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335972.11",
"protein_coding": true,
"protein_id": "NP_003325.2",
"strand": true,
"transcript": "NM_003334.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000335972.11",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003334.4",
"protein_coding": true,
"protein_id": "ENSP00000338413.6",
"strand": true,
"transcript": "ENST00000335972.11",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3466,
"cdna_start": 2454,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000377351.8",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366568.4",
"strand": true,
"transcript": "ENST00000377351.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "A",
"aa_start": 833,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": 2695,
"cds_end": null,
"cds_length": 3312,
"cds_start": 2499,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880189.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2499C>T",
"hgvs_p": "p.Ala833Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550248.1",
"strand": true,
"transcript": "ENST00000880189.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000880195.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550254.1",
"strand": true,
"transcript": "ENST00000880195.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "A",
"aa_start": 802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": 2607,
"cds_end": null,
"cds_length": 3219,
"cds_start": 2406,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001440807.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2406C>T",
"hgvs_p": "p.Ala802Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427736.1",
"strand": true,
"transcript": "NM_001440807.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "A",
"aa_start": 801,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 2641,
"cds_end": null,
"cds_length": 3216,
"cds_start": 2403,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940362.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610421.1",
"strand": true,
"transcript": "ENST00000940362.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1071,
"aa_ref": "A",
"aa_start": 801,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3611,
"cdna_start": 2599,
"cds_end": null,
"cds_length": 3216,
"cds_start": 2403,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940379.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2403C>T",
"hgvs_p": "p.Ala801Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610438.1",
"strand": true,
"transcript": "ENST00000940379.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "A",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 2638,
"cds_end": null,
"cds_length": 3195,
"cds_start": 2382,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001440809.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2382C>T",
"hgvs_p": "p.Ala794Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427738.1",
"strand": true,
"transcript": "NM_001440809.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "A",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 2635,
"cds_end": null,
"cds_length": 3195,
"cds_start": 2382,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001440810.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2382C>T",
"hgvs_p": "p.Ala794Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427739.1",
"strand": true,
"transcript": "NM_001440810.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 3183,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940386.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610445.1",
"strand": true,
"transcript": "ENST00000940386.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3686,
"cdna_start": 2674,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001440811.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427740.1",
"strand": true,
"transcript": "NM_001440811.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001440812.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427741.1",
"strand": true,
"transcript": "NM_001440812.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": 2468,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_153280.3",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_695012.1",
"strand": true,
"transcript": "NM_153280.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000880170.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550229.1",
"strand": true,
"transcript": "ENST00000880170.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 2541,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000880171.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550230.1",
"strand": true,
"transcript": "ENST00000880171.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880172.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550231.1",
"strand": true,
"transcript": "ENST00000880172.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3496,
"cdna_start": 2484,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880173.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550232.1",
"strand": true,
"transcript": "ENST00000880173.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880174.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550233.1",
"strand": true,
"transcript": "ENST00000880174.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 2633,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880175.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550234.1",
"strand": true,
"transcript": "ENST00000880175.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 2547,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000880176.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550235.1",
"strand": true,
"transcript": "ENST00000880176.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3734,
"cdna_start": 2722,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880178.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550237.1",
"strand": true,
"transcript": "ENST00000880178.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3679,
"cdna_start": 2665,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880179.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550238.1",
"strand": true,
"transcript": "ENST00000880179.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3676,
"cdna_start": 2662,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880180.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550239.1",
"strand": true,
"transcript": "ENST00000880180.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3923,
"cdna_start": 2911,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000880181.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550240.1",
"strand": true,
"transcript": "ENST00000880181.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000880182.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550241.1",
"strand": true,
"transcript": "ENST00000880182.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000880183.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550242.1",
"strand": true,
"transcript": "ENST00000880183.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4242,
"cdna_start": 3230,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000880185.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550244.1",
"strand": true,
"transcript": "ENST00000880185.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000880186.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550245.1",
"strand": true,
"transcript": "ENST00000880186.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 2675,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880187.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550246.1",
"strand": true,
"transcript": "ENST00000880187.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3643,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880190.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550249.1",
"strand": true,
"transcript": "ENST00000880190.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880191.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550250.1",
"strand": true,
"transcript": "ENST00000880191.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3893,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000880193.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550252.1",
"strand": true,
"transcript": "ENST00000880193.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3771,
"cdna_start": 2759,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880196.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550255.1",
"strand": true,
"transcript": "ENST00000880196.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 2686,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000880197.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550256.1",
"strand": true,
"transcript": "ENST00000880197.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5616,
"cdna_start": 4602,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000880198.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550257.1",
"strand": true,
"transcript": "ENST00000880198.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3605,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000880199.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550258.1",
"strand": true,
"transcript": "ENST00000880199.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3603,
"cdna_start": 2591,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940367.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610426.1",
"strand": true,
"transcript": "ENST00000940367.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 2440,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940368.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610427.1",
"strand": true,
"transcript": "ENST00000940368.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3566,
"cdna_start": 2552,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940369.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610428.1",
"strand": true,
"transcript": "ENST00000940369.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3518,
"cdna_start": 2507,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940371.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610430.1",
"strand": true,
"transcript": "ENST00000940371.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3548,
"cdna_start": 2493,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940372.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610431.1",
"strand": true,
"transcript": "ENST00000940372.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 2832,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940373.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610432.1",
"strand": true,
"transcript": "ENST00000940373.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3715,
"cdna_start": 2706,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000940374.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610433.1",
"strand": true,
"transcript": "ENST00000940374.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": 2718,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940375.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610434.1",
"strand": true,
"transcript": "ENST00000940375.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 2704,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940377.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610436.1",
"strand": true,
"transcript": "ENST00000940377.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3669,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940380.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610439.1",
"strand": true,
"transcript": "ENST00000940380.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 2653,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940381.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610440.1",
"strand": true,
"transcript": "ENST00000940381.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": 2818,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000940382.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610441.1",
"strand": true,
"transcript": "ENST00000940382.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6064,
"cdna_start": 5052,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940383.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610442.1",
"strand": true,
"transcript": "ENST00000940383.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3732,
"cdna_start": 2721,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000940384.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610443.1",
"strand": true,
"transcript": "ENST00000940384.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 2726,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000940385.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610444.1",
"strand": true,
"transcript": "ENST00000940385.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 2496,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940387.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610446.1",
"strand": true,
"transcript": "ENST00000940387.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 2655,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000940388.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610447.1",
"strand": true,
"transcript": "ENST00000940388.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3626,
"cdna_start": 2613,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000954377.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624436.1",
"strand": true,
"transcript": "ENST00000954377.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3582,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000954378.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624437.1",
"strand": true,
"transcript": "ENST00000954378.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3597,
"cdna_start": 2587,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000954379.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624438.1",
"strand": true,
"transcript": "ENST00000954379.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": 2508,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000954380.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624439.1",
"strand": true,
"transcript": "ENST00000954380.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 2729,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000954382.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624441.1",
"strand": true,
"transcript": "ENST00000954382.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3647,
"cdna_start": 2634,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000954383.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624442.1",
"strand": true,
"transcript": "ENST00000954383.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3762,
"cdna_start": 2749,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000954384.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624443.1",
"strand": true,
"transcript": "ENST00000954384.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3856,
"cdna_start": 2845,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000954386.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624445.1",
"strand": true,
"transcript": "ENST00000954386.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3665,
"cdna_start": 2654,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000954387.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624446.1",
"strand": true,
"transcript": "ENST00000954387.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4089,
"cdna_start": 3075,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000954388.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624447.1",
"strand": true,
"transcript": "ENST00000954388.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "A",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3569,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2361,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000880188.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Ala787Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550247.1",
"strand": true,
"transcript": "ENST00000880188.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "A",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3565,
"cdna_start": 2551,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2361,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940364.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Ala787Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610423.1",
"strand": true,
"transcript": "ENST00000940364.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1057,
"aa_ref": "A",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3671,
"cdna_start": 2658,
"cds_end": null,
"cds_length": 3174,
"cds_start": 2361,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000954381.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2361C>T",
"hgvs_p": "p.Ala787Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624440.1",
"strand": true,
"transcript": "ENST00000954381.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "A",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3430,
"cdna_start": 2418,
"cds_end": null,
"cds_length": 3171,
"cds_start": 2358,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940389.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2358C>T",
"hgvs_p": "p.Ala786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610448.1",
"strand": true,
"transcript": "ENST00000940389.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1056,
"aa_ref": "A",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 2515,
"cds_end": null,
"cds_length": 3171,
"cds_start": 2358,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000954376.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2358C>T",
"hgvs_p": "p.Ala786Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624435.1",
"strand": true,
"transcript": "ENST00000954376.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 2521,
"cds_end": null,
"cds_length": 3072,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940363.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610422.1",
"strand": true,
"transcript": "ENST00000940363.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1023,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 2561,
"cds_end": null,
"cds_length": 3072,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940376.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610435.1",
"strand": true,
"transcript": "ENST00000940376.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2250,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000880177.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2250C>T",
"hgvs_p": "p.Ala750Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550236.1",
"strand": true,
"transcript": "ENST00000880177.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 2521,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2250,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000880194.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2250C>T",
"hgvs_p": "p.Ala750Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550253.1",
"strand": true,
"transcript": "ENST00000880194.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3342,
"cdna_start": 2330,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2250,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000940366.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2250C>T",
"hgvs_p": "p.Ala750Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610425.1",
"strand": true,
"transcript": "ENST00000940366.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1009,
"aa_ref": "A",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": 2413,
"cds_end": null,
"cds_length": 3030,
"cds_start": 2217,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000880192.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2217C>T",
"hgvs_p": "p.Ala739Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550251.1",
"strand": true,
"transcript": "ENST00000880192.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 966,
"aa_ref": "A",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3234,
"cdna_start": 2222,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2088,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000940370.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2088C>T",
"hgvs_p": "p.Ala696Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610429.1",
"strand": true,
"transcript": "ENST00000940370.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 966,
"aa_ref": "A",
"aa_start": 696,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3295,
"cdna_start": 2284,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2088,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000954385.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2088C>T",
"hgvs_p": "p.Ala696Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624444.1",
"strand": true,
"transcript": "ENST00000954385.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 937,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": 2207,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000880184.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2001C>T",
"hgvs_p": "p.Ala667Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550243.1",
"strand": true,
"transcript": "ENST00000880184.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 937,
"aa_ref": "A",
"aa_start": 667,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3170,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2001,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000940365.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2001C>T",
"hgvs_p": "p.Ala667Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610424.1",
"strand": true,
"transcript": "ENST00000940365.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 506,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": 1487,
"cds_end": null,
"cds_length": 1521,
"cds_start": 708,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000377269.3",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.708C>T",
"hgvs_p": "p.Ala236Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366481.3",
"strand": true,
"transcript": "ENST00000377269.3",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1109,
"aa_ref": "A",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7903,
"cdna_start": 6891,
"cds_end": null,
"cds_length": 3330,
"cds_start": 2517,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017029777.2",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2517C>T",
"hgvs_p": "p.Ala839Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885266.1",
"strand": true,
"transcript": "XM_017029777.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1109,
"aa_ref": "A",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4981,
"cdna_start": 3969,
"cds_end": null,
"cds_length": 3330,
"cds_start": 2517,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_047442420.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2517C>T",
"hgvs_p": "p.Ala839Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298376.1",
"strand": true,
"transcript": "XM_047442420.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1086,
"aa_ref": "A",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5868,
"cdna_start": 4856,
"cds_end": null,
"cds_length": 3261,
"cds_start": 2448,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "XM_017029778.3",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2448C>T",
"hgvs_p": "p.Ala816Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885267.1",
"strand": true,
"transcript": "XM_017029778.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "A",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2445,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047442421.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2445C>T",
"hgvs_p": "p.Ala815Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298377.1",
"strand": true,
"transcript": "XM_047442421.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1085,
"aa_ref": "A",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3694,
"cdna_start": 2682,
"cds_end": null,
"cds_length": 3258,
"cds_start": 2445,
"consequences": [
"synonymous_variant"
],
"exon_count": 28,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047442422.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2445C>T",
"hgvs_p": "p.Ala815Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298378.1",
"strand": true,
"transcript": "XM_047442422.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5821,
"cdna_start": 4809,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_017029780.2",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885269.1",
"strand": true,
"transcript": "XM_017029780.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3442,
"cdna_start": 2430,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047442424.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298380.1",
"strand": true,
"transcript": "XM_047442424.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1058,
"aa_ref": "A",
"aa_start": 788,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": 2411,
"cds_end": null,
"cds_length": 3177,
"cds_start": 2364,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "XM_047442425.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.2364C>T",
"hgvs_p": "p.Ala788Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298381.1",
"strand": true,
"transcript": "XM_047442425.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 272,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1261,
"cdna_start": null,
"cds_end": null,
"cds_length": 819,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940378.1",
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"hgvs_c": "c.481-3202C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610437.1",
"strand": true,
"transcript": "ENST00000940378.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1360,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_949047.4",
"gene_hgnc_id": null,
"gene_symbol": "LOC105373194",
"hgvs_c": "n.278-5775G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "XR_949047.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2228658",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0009758613,
"gene_hgnc_id": 12469,
"gene_symbol": "UBA1",
"gnomad_exomes_ac": 616,
"gnomad_exomes_af": 0.000561007,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_ac": 565,
"gnomad_genomes_af": 0.00503619,
"gnomad_genomes_homalt": 2,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 356,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign/Likely benign",
"phenotype_combined": "Infantile-onset X-linked spinal muscular atrophy|not specified|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.717,
"pos": 47211125,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001440807.1"
}
]
}