Canonical Allele Identifier: CA375451138

Gene: COL5A1

Linked Data

• dbSNP Id: rs962170388
• gnomAD v3: 9-134731622-G-C
• gnomAD v4: 9-134731622-G-C
• MyVariant Identifiers: chr9:g.137623468G>C (hg19) ; chr9:g.134731622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731622G>C , CM000671.2:g.134731622G>C	GRCh38
NC_000009.11:g.137623468G>C , CM000671.1:g.137623468G>C	GRCh37
NC_000009.10:g.136763289G>C	NCBI36
NG_008030.1:g.94817G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1291G>C	ENSP00000360885.4:p.Gly431Arg
ENST00000371817.8:c.1291G>C MANE Select	ENSP00000360882.3:p.Gly431Arg
ENST00000371817.7:c.1291G>C	ENSP00000360882.3:p.Gly431Arg
ENST00000469093.1:n.30G>C
ENST00000618395.4:c.1291G>C	ENSP00000481360.1:p.Gly431Arg
NM_000093.4:c.1291G>C	NP_000084.3:p.Gly431Arg
NM_001278074.1:c.1291G>C	NP_001265003.1:p.Gly431Arg
XR_929712.1:n.1693G>C
XR_929713.1:n.1693G>C
XM_017014266.2:c.1291G>C	XP_016869755.1:p.Gly431Arg
XR_001746183.1:n.1689G>C
NM_000093.5:c.1291G>C MANE Select	NP_000084.3:p.Gly431Arg