Canonical Allele Identifier: CA8737020

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69261214C>T , CM000679.2:g.69261214C>T	GRCh38
NC_000017.10:g.67257355C>T , CM000679.1:g.67257355C>T	GRCh37
NC_000017.9:g.64768950C>T	NCBI36
NG_034199.1:g.70969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.3475G>A MANE Select	ENSP00000376443.2:p.Gly1159Arg
ENST00000392676.7:c.3475G>A	ENSP00000376443.2:p.Gly1159Arg
ENST00000586811.1:c.373G>A	ENSP00000465351.1:p.Gly125Arg
ENST00000586995.5:c.2537G>A	ENSP00000467251.1:n.2537G>A
ENST00000588877.5:c.3475G>A	ENSP00000467882.1:p.Gly1159Arg
ENST00000591234.5:c.1417G>A	ENSP00000465766.1:n.1417G>A
NM_018672.4:c.3475G>A	NP_061142.2:p.Gly1159Arg
NM_172232.3:c.3475G>A	NP_758424.1:p.Gly1159Arg
NM_172232.4:c.3475G>A MANE Select	NP_758424.1:p.Gly1159Arg
NM_018672.5:c.3475G>A	NP_061142.2:p.Gly1159Arg