Canonical Allele Identifier: CA1140725899

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94046925G= , CM000663.2:g.94046925G=	GRCh38
NC_000001.10:g.94512481G= , CM000663.1:g.94512481G=	GRCh37
NC_000001.9:g.94285069G=	NCBI36
NG_009073.1:g.79225C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2912C= MANE Select	ENSP00000359245.3:p.Thr971=
ENST00000649773.1:c.2690C=	ENSP00000496882.1:p.Thr897=
ENST00000370225.3:c.2912C=	ENSP00000359245.3:p.Thr971=
ENST00000536513.5:c.-64-6836C=	ENSP00000439707.2:n.-64-6836C=
NM_000350.2:c.2912C=	NP_000341.2:p.Thr971=
NM_000350.3:c.2912C= MANE Select	NP_000341.2:p.Thr971=