Canonical Allele Identifier: CA1181414934

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030475C= , CM000663.2:g.94030475C=	GRCh38
NC_000001.10:g.94496031C= , CM000663.1:g.94496031C=	GRCh37
NC_000001.9:g.94268619C=	NCBI36
NG_009073.1:g.95675G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4305G= MANE Select	ENSP00000359245.3:p.Leu1435=
ENST00000370225.3:c.4305G=	ENSP00000359245.3:p.Leu1435=
ENST00000536513.5:c.681G=	ENSP00000439707.2:p.Leu227=
NM_000350.2:c.4305G=	NP_000341.2:p.Leu1435=
NM_000350.3:c.4305G= MANE Select	NP_000341.2:p.Leu1435=