Canonical Allele Identifier: CA1140725879

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043462C= , CM000663.2:g.94043462C=	GRCh38
NC_000001.10:g.94509018C= , CM000663.1:g.94509018C=	GRCh37
NC_000001.9:g.94281606C=	NCBI36
NG_009073.1:g.82688G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3064G= MANE Select	ENSP00000359245.3:p.Glu1022=
ENST00000370225.3:c.3064G=	ENSP00000359245.3:p.Glu1022=
ENST00000536513.5:c.-64-3373G=	ENSP00000439707.2:n.-64-3373G=
NM_000350.2:c.3064G=	NP_000341.2:p.Glu1022=
NM_000350.3:c.3064G= MANE Select	NP_000341.2:p.Glu1022=