Canonical Allele Identifier: CA1181422597

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046959C= , CM000663.2:g.94046959C=	GRCh38
NC_000001.10:g.94512515C= , CM000663.1:g.94512515C=	GRCh37
NC_000001.9:g.94285103C=	NCBI36
NG_009073.1:g.79191G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.2878G= MANE Select	ENSP00000359245.3:p.Ala960=
ENST00000649773.1:c.2656G=	ENSP00000496882.1:p.Ala886=
ENST00000370225.3:c.2878G=	ENSP00000359245.3:p.Ala960=
ENST00000536513.5:c.-64-6870G=	ENSP00000439707.2:n.-64-6870G=
NM_000350.2:c.2878G=	NP_000341.2:p.Ala960=
NM_000350.3:c.2878G= MANE Select	NP_000341.2:p.Ala960=