Canonical Allele Identifier: CA1181426521

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056784G= , CM000663.2:g.94056784G=	GRCh38
NC_000001.10:g.94522340G= , CM000663.1:g.94522340G=	GRCh37
NC_000001.9:g.94294928G=	NCBI36
NG_009073.1:g.69366C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2199C= MANE Select	ENSP00000359245.3:p.Leu733=
ENST00000649773.1:c.2161-1469C=	ENSP00000496882.1:n.2161-1469C=
ENST00000370225.3:c.2199C=	ENSP00000359245.3:p.Leu733=
ENST00000536513.5:c.-65+6390C=	ENSP00000439707.2:n.-65+6390C=
NM_000350.2:c.2199C=	NP_000341.2:p.Leu733=
NM_000350.3:c.2199C= MANE Select	NP_000341.2:p.Leu733=