Canonical Allele Identifier: CA1141314572

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021848C= , CM000663.2:g.94021848C=	GRCh38
NC_000001.10:g.94487404C= , CM000663.1:g.94487404C=	GRCh37
NC_000001.9:g.94259992C=	NCBI36
NG_009073.1:g.104302G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.4771G= MANE Select	ENSP00000359245.3:p.Gly1591=
ENST00000370225.3:c.4771G=	ENSP00000359245.3:p.Gly1591=
ENST00000460514.1:n.265G=
ENST00000536513.5:c.1147G=	ENSP00000439707.2:p.Gly383=
NM_000350.2:c.4771G=	NP_000341.2:p.Gly1591=
NM_000350.3:c.4771G= MANE Select	NP_000341.2:p.Gly1591=