Canonical Allele Identifier: CA1883339176

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731570C= , CM000671.2:g.134731570C=	GRCh38
NC_000009.11:g.137623416C= , CM000671.1:g.137623416C=	GRCh37
NC_000009.10:g.136763237C=	NCBI36
NG_008030.1:g.94765C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.1239C=	ENSP00000360885.4:p.Asp413=
ENST00000371817.8:c.1239C= MANE Select	ENSP00000360882.3:p.Asp413=
ENST00000371817.7:c.1239C=	ENSP00000360882.3:p.Asp413=
ENST00000618395.4:c.1239C=	ENSP00000481360.1:p.Asp413=
NM_000093.4:c.1239C=	NP_000084.3:p.Asp413=
NM_001278074.1:c.1239C=	NP_001265003.1:p.Asp413=
XR_929712.1:n.1641C=
XR_929713.1:n.1641C=
XM_017014266.2:c.1239C=	XP_016869755.1:p.Asp413=
XR_001746183.1:n.1637C=
NM_000093.5:c.1239C= MANE Select	NP_000084.3:p.Asp413=