Canonical Allele Identifier: CA1883339184

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731572A= , CM000671.2:g.134731572A=	GRCh38
NC_000009.11:g.137623418A= , CM000671.1:g.137623418A=	GRCh37
NC_000009.10:g.136763239A=	NCBI36
NG_008030.1:g.94767A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.1241A=	ENSP00000360885.4:p.Glu414=
ENST00000371817.8:c.1241A= MANE Select	ENSP00000360882.3:p.Glu414=
ENST00000371817.7:c.1241A=	ENSP00000360882.3:p.Glu414=
ENST00000618395.4:c.1241A=	ENSP00000481360.1:p.Glu414=
NM_000093.4:c.1241A=	NP_000084.3:p.Glu414=
NM_001278074.1:c.1241A=	NP_001265003.1:p.Glu414=
XR_929712.1:n.1643A=
XR_929713.1:n.1643A=
XM_017014266.2:c.1241A=	XP_016869755.1:p.Glu414=
XR_001746183.1:n.1639A=
NM_000093.5:c.1241A= MANE Select	NP_000084.3:p.Glu414=