Canonical Allele Identifier: CA1181395130

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997939C= , CM000663.2:g.93997939C=	GRCh38
NC_000001.10:g.94463495C= , CM000663.1:g.94463495C=	GRCh37
NC_000001.9:g.94236083C=	NCBI36
NG_009073.1:g.128211G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6651G= MANE Select	ENSP00000359245.3:p.Arg2217=
ENST00000370225.3:c.6651G=	ENSP00000359245.3:p.Arg2217=
ENST00000536513.5:c.3027G=	ENSP00000439707.2:p.Arg1009=
NM_000350.2:c.6651G=	NP_000341.2:p.Arg2217=
NM_000350.3:c.6651G= MANE Select	NP_000341.2:p.Arg2217=