Canonical Allele Identifier: CA1883339258

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731608C= , CM000671.2:g.134731608C=	GRCh38
NC_000009.11:g.137623454C= , CM000671.1:g.137623454C=	GRCh37
NC_000009.10:g.136763275C=	NCBI36
NG_008030.1:g.94803C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1277C=	ENSP00000360885.4:p.Ser426=
ENST00000371817.8:c.1277C= MANE Select	ENSP00000360882.3:p.Ser426=
ENST00000371817.7:c.1277C=	ENSP00000360882.3:p.Ser426=
ENST00000469093.1:n.16C=
ENST00000618395.4:c.1277C=	ENSP00000481360.1:p.Ser426=
NM_000093.4:c.1277C=	NP_000084.3:p.Ser426=
NM_001278074.1:c.1277C=	NP_001265003.1:p.Ser426=
XR_929712.1:n.1679C=
XR_929713.1:n.1679C=
XM_017014266.2:c.1277C=	XP_016869755.1:p.Ser426=
XR_001746183.1:n.1675C=
NM_000093.5:c.1277C= MANE Select	NP_000084.3:p.Ser426=