Canonical Allele Identifier: CA232815

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94005469C>T , CM000663.2:g.94005469C>T	GRCh38
NC_000001.10:g.94471025C>T , CM000663.1:g.94471025C>T	GRCh37
NC_000001.9:g.94243613C>T	NCBI36
NG_009073.1:g.120681G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000350.3:c.6119G>A MANE Select	NP_000341.2:p.Arg2040Gln
ENST00000370225.4:c.6119G>A MANE Select	ENSP00000359245.3:p.Arg2040Gln
NM_000350.2:c.6119G>A	NP_000341.2:p.Arg2040Gln
ENST00000370225.3:c.6119G>A	ENSP00000359245.3:p.Arg2040Gln
ENST00000465352.1:n.535G>A
ENST00000484388.1:n.233G>A
ENST00000536513.5:c.2495G>A	ENSP00000439707.2:p.Arg832Gln