Canonical Allele Identifier: CA1181420686

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94042886C= , CM000663.2:g.94042886C=	GRCh38
NC_000001.10:g.94508442C= , CM000663.1:g.94508442C=	GRCh37
NC_000001.9:g.94281030C=	NCBI36
NG_009073.1:g.83264G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3203G= MANE Select	ENSP00000359245.3:p.Arg1068=
ENST00000370225.3:c.3203G=	ENSP00000359245.3:p.Arg1068=
ENST00000536513.5:c.-64-2797G=	ENSP00000439707.2:n.-64-2797G=
NM_000350.2:c.3203G=	NP_000341.2:p.Arg1068=
NM_000350.3:c.3203G= MANE Select	NP_000341.2:p.Arg1068=