Canonical Allele Identifier: CA1181422586

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046932T= , CM000663.2:g.94046932T=	GRCh38
NC_000001.10:g.94512488T= , CM000663.1:g.94512488T=	GRCh37
NC_000001.9:g.94285076T=	NCBI36
NG_009073.1:g.79218A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2905A= MANE Select	ENSP00000359245.3:p.Lys969=
ENST00000649773.1:c.2683A=	ENSP00000496882.1:p.Lys895=
ENST00000370225.3:c.2905A=	ENSP00000359245.3:p.Lys969=
ENST00000536513.5:c.-64-6843A=	ENSP00000439707.2:n.-64-6843A=
NM_000350.2:c.2905A=	NP_000341.2:p.Lys969=
NM_000350.3:c.2905A= MANE Select	NP_000341.2:p.Lys969=