Canonical Allele Identifier: CA1883393034

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835149A= , CM000671.2:g.134835149A=	GRCh38
NC_000009.11:g.137726995A= , CM000671.1:g.137726995A=	GRCh37
NC_000009.10:g.136866816A=	NCBI36
NG_008030.1:g.198344A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5315A=	ENSP00000360885.4:p.Glu1772=
ENST00000371817.8:c.5315A= MANE Select	ENSP00000360882.3:p.Glu1772=
ENST00000371817.7:c.5315A=	ENSP00000360882.3:p.Glu1772=
ENST00000371820.3:c.573A=
ENST00000618395.4:c.5315A=	ENSP00000481360.1:p.Glu1772=
NM_000093.4:c.5315A=	NP_000084.3:p.Glu1772=
NM_001278074.1:c.5315A=	NP_001265003.1:p.Glu1772=
NR_103451.2:n.71-14940T=
NM_000093.5:c.5315A= MANE Select	NP_000084.3:p.Glu1772=