Canonical Allele Identifier: CA375461735

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134842170-A-G
• MyVariant Identifiers: chr9:g.137734016A>G (hg19) ; chr9:g.134842170A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842170A>G , CM000671.2:g.134842170A>G	GRCh38
NC_000009.11:g.137734016A>G , CM000671.1:g.137734016A>G	GRCh37
NC_000009.10:g.136873837A>G	NCBI36
NG_008030.1:g.205365A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5384A>G	ENSP00000360885.4:p.Tyr1795Cys
ENST00000371817.8:c.5384A>G MANE Select	ENSP00000360882.3:p.Tyr1795Cys
ENST00000371817.7:c.5384A>G	ENSP00000360882.3:p.Tyr1795Cys
ENST00000618395.4:c.5384A>G	ENSP00000481360.1:p.Tyr1795Cys
NM_000093.4:c.5384A>G	NP_000084.3:p.Tyr1795Cys
NM_001278074.1:c.5384A>G	NP_001265003.1:p.Tyr1795Cys
NR_103451.2:n.71-21961T>C
NM_000093.5:c.5384A>G MANE Select	NP_000084.3:p.Tyr1795Cys