Canonical Allele Identifier: CA375450600

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134731514-G-C
• MyVariant Identifiers: chr9:g.137623360G>C (hg19) ; chr9:g.134731514G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731514G>C , CM000671.2:g.134731514G>C	GRCh38
NC_000009.11:g.137623360G>C , CM000671.1:g.137623360G>C	GRCh37
NC_000009.10:g.136763181G>C	NCBI36
NG_008030.1:g.94709G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1183G>C	ENSP00000360885.4:p.Glu395Gln
ENST00000371817.8:c.1183G>C MANE Select	ENSP00000360882.3:p.Glu395Gln
ENST00000371817.7:c.1183G>C	ENSP00000360882.3:p.Glu395Gln
ENST00000618395.4:c.1183G>C	ENSP00000481360.1:p.Glu395Gln
NM_000093.4:c.1183G>C	NP_000084.3:p.Glu395Gln
NM_001278074.1:c.1183G>C	NP_001265003.1:p.Glu395Gln
XR_929712.1:n.1585G>C
XR_929713.1:n.1585G>C
XM_017014266.2:c.1183G>C	XP_016869755.1:p.Glu395Gln
XR_001746183.1:n.1581G>C
NM_000093.5:c.1183G>C MANE Select	NP_000084.3:p.Glu395Gln