Canonical Allele Identifier: CA1181414933

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030473T= , CM000663.2:g.94030473T=	GRCh38
NC_000001.10:g.94496029T= , CM000663.1:g.94496029T=	GRCh37
NC_000001.9:g.94268617T=	NCBI36
NG_009073.1:g.95677A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4307A= MANE Select	ENSP00000359245.3:p.Asn1436=
ENST00000370225.3:c.4307A=	ENSP00000359245.3:p.Asn1436=
ENST00000536513.5:c.683A=	ENSP00000439707.2:p.Asn228=
NM_000350.2:c.4307A=	NP_000341.2:p.Asn1436=
NM_000350.3:c.4307A= MANE Select	NP_000341.2:p.Asn1436=