Canonical Allele Identifier: CA1144753986

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030492G= , CM000663.2:g.94030492G=	GRCh38
NC_000001.10:g.94496048G= , CM000663.1:g.94496048G=	GRCh37
NC_000001.9:g.94268636G=	NCBI36
NG_009073.1:g.95658C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4288C= MANE Select	ENSP00000359245.3:p.Leu1430=
ENST00000370225.3:c.4288C=	ENSP00000359245.3:p.Leu1430=
ENST00000536513.5:c.664C=	ENSP00000439707.2:p.Leu222=
NM_000350.2:c.4288C=	NP_000341.2:p.Leu1430=
NM_000350.3:c.4288C= MANE Select	NP_000341.2:p.Leu1430=