Canonical Allele Identifier: CA5320689
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 653937
ClinVar RCV Id: RCV001759559 RCV002234773
dbSNP Id: rs778249693
ExAC: 9:137727006 T / C
gnomAD v2: 9-137727006-T-C
gnomAD v3: 9-134835160-T-C
gnomAD v4: 9-134835160-T-C
MyVariant Identifiers: chr9:g.137727006T>C (hg19) chr9:g.134835160T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835160T>C , CM000671.2:g.134835160T>C GRCh38
NC_000009.11:g.137727006T>C , CM000671.1:g.137727006T>C GRCh37
NC_000009.10:g.136866827T>C NCBI36
NG_008030.1:g.198355T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5326T>C ENSP00000360885.4:p.Tyr1776His
ENST00000371817.8:c.5326T>C MANE Select ENSP00000360882.3:p.Tyr1776His
ENST00000371817.7:c.5326T>C ENSP00000360882.3:p.Tyr1776His
ENST00000371820.3:c.584T>C
ENST00000618395.4:c.5326T>C ENSP00000481360.1:p.Tyr1776His
NM_000093.4:c.5326T>C NP_000084.3:p.Tyr1776His
NM_001278074.1:c.5326T>C NP_001265003.1:p.Tyr1776His
NR_103451.2:n.71-14951A>G
NM_000093.5:c.5326T>C MANE Select NP_000084.3:p.Tyr1776His
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