Canonical Allele Identifier: CA8737261

Gene: ABCA5

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69274136G>A , CM000679.2:g.69274136G>A	GRCh38
NC_000017.10:g.67270277G>A , CM000679.1:g.67270277G>A	GRCh37
NC_000017.9:g.64781872G>A	NCBI36
NG_034199.1:g.58047C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_172232.4:c.2595-8C>T MANE Select	NP_758424.1:n.2595-8C>T
ENST00000392676.8:c.2595-8C>T MANE Select	ENSP00000376443.2:n.2595-8C>T
NM_018672.4:c.2595-8C>T	NP_061142.2:n.2595-8C>T
NM_018672.5:c.2595-8C>T	NP_061142.2:n.2595-8C>T
NM_172232.3:c.2595-8C>T	NP_758424.1:n.2595-8C>T
ENST00000392676.7:c.2595-8C>T	ENSP00000376443.2:n.2595-8C>T
ENST00000586995.5:c.1641-8C>T	ENSP00000467251.1:n.1641-8C>T
ENST00000588877.5:c.2595-8C>T	ENSP00000467882.1:n.2595-8C>T
ENST00000591234.5:c.537-8C>T	ENSP00000465766.1:n.537-8C>T
ENST00000593153.5:c.2595-8C>T	ENSP00000467448.1:n.2595-8C>T