Canonical Allele Identifier: CA1181408550

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021660C= , CM000663.2:g.94021660C=	GRCh38
NC_000001.10:g.94487216C= , CM000663.1:g.94487216C=	GRCh37
NC_000001.9:g.94259804C=	NCBI36
NG_009073.1:g.104490G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4828G= MANE Select	ENSP00000359245.3:p.Glu1610=
ENST00000370225.3:c.4828G=	ENSP00000359245.3:p.Glu1610=
ENST00000460514.1:n.322G=
ENST00000536513.5:c.1204G=	ENSP00000439707.2:p.Glu402=
NM_000350.2:c.4828G=	NP_000341.2:p.Glu1610=
NM_000350.3:c.4828G= MANE Select	NP_000341.2:p.Glu1610=