Canonical Allele Identifier: CA375442505

Gene: COL5A1

Linked Data

• dbSNP Id: rs1348034435
• gnomAD v2: 9-137591794-T-C
• gnomAD v4: 9-134699948-T-C
• MyVariant Identifiers: chr9:g.137591794T>C (hg19) ; chr9:g.134699948T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134699948T>C , CM000671.2:g.134699948T>C	GRCh38
NC_000009.11:g.137591794T>C , CM000671.1:g.137591794T>C	GRCh37
NC_000009.10:g.136731615T>C	NCBI36
NG_008030.1:g.63143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.317T>C	ENSP00000360885.4:p.Val106Ala
ENST00000371817.8:c.317T>C MANE Select	ENSP00000360882.3:p.Val106Ala
ENST00000371817.7:c.317T>C	ENSP00000360882.3:p.Val106Ala
ENST00000464187.1:n.739T>C
ENST00000618395.4:c.317T>C	ENSP00000481360.1:p.Val106Ala
NM_000093.4:c.317T>C	NP_000084.3:p.Val106Ala
NM_001278074.1:c.317T>C	NP_001265003.1:p.Val106Ala
XR_929712.1:n.719T>C
XR_929713.1:n.719T>C
XM_017014266.2:c.317T>C	XP_016869755.1:p.Val106Ala
XR_001746183.1:n.715T>C
NM_000093.5:c.317T>C MANE Select	NP_000084.3:p.Val106Ala