Canonical Allele Identifier: CA1139927669

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001069G= , CM000663.2:g.94001069G=	GRCh38
NC_000001.10:g.94466625G= , CM000663.1:g.94466625G=	GRCh37
NC_000001.9:g.94239213G=	NCBI36
NG_009073.1:g.125081C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6319C= MANE Select	ENSP00000359245.3:p.Arg2107=
ENST00000370225.3:c.6319C=	ENSP00000359245.3:p.Arg2107=
ENST00000536513.5:c.2695C=	ENSP00000439707.2:p.Arg899=
NM_000350.2:c.6319C=	NP_000341.2:p.Arg2107=
NM_000350.3:c.6319C= MANE Select	NP_000341.2:p.Arg2107=