Canonical Allele Identifier: CA227254

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021339C>T , CM000663.2:g.94021339C>T	GRCh38
NC_000001.10:g.94486895C>T , CM000663.1:g.94486895C>T	GRCh37
NC_000001.9:g.94259483C>T	NCBI36
NG_009073.1:g.104811G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000350.3:c.4919G>A MANE Select	NP_000341.2:p.Arg1640Gln
ENST00000370225.4:c.4919G>A MANE Select	ENSP00000359245.3:p.Arg1640Gln
NM_000350.2:c.4919G>A	NP_000341.2:p.Arg1640Gln
ENST00000370225.3:c.4919G>A	ENSP00000359245.3:p.Arg1640Gln
ENST00000460514.1:n.413G>A
ENST00000470771.1:n.29G>A
ENST00000536513.5:c.1295G>A	ENSP00000439707.2:p.Arg432Gln