Canonical Allele Identifier: CA375460886
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1839805757
gnomAD v4: 9-134835161-A-G
COSMIC: COSM3905473
MyVariant Identifiers: chr9:g.137727007A>G (hg19) chr9:g.134835161A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835161A>G , CM000671.2:g.134835161A>G GRCh38
NC_000009.11:g.137727007A>G , CM000671.1:g.137727007A>G GRCh37
NC_000009.10:g.136866828A>G NCBI36
NG_008030.1:g.198356A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5327A>G ENSP00000360885.4:p.Tyr1776Cys
ENST00000371817.8:c.5327A>G MANE Select ENSP00000360882.3:p.Tyr1776Cys
ENST00000371817.7:c.5327A>G ENSP00000360882.3:p.Tyr1776Cys
ENST00000371820.3:c.585A>G
ENST00000618395.4:c.5327A>G ENSP00000481360.1:p.Tyr1776Cys
NM_000093.4:c.5327A>G NP_000084.3:p.Tyr1776Cys
NM_001278074.1:c.5327A>G NP_001265003.1:p.Tyr1776Cys
NR_103451.2:n.71-14952T>C
NM_000093.5:c.5327A>G MANE Select NP_000084.3:p.Tyr1776Cys
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