Canonical Allele Identifier: CA1181422596

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046958G= , CM000663.2:g.94046958G=	GRCh38
NC_000001.10:g.94512514G= , CM000663.1:g.94512514G=	GRCh37
NC_000001.9:g.94285102G=	NCBI36
NG_009073.1:g.79192C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2879C= MANE Select	ENSP00000359245.3:p.Ala960=
ENST00000649773.1:c.2657C=	ENSP00000496882.1:p.Ala886=
ENST00000370225.3:c.2879C=	ENSP00000359245.3:p.Ala960=
ENST00000536513.5:c.-64-6869C=	ENSP00000439707.2:n.-64-6869C=
NM_000350.2:c.2879C=	NP_000341.2:p.Ala960=
NM_000350.3:c.2879C= MANE Select	NP_000341.2:p.Ala960=