Canonical Allele Identifier: CA356237090

Gene: ACOX3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.8367062C>T , CM000666.2:g.8367062C>T	GRCh38
NC_000004.11:g.8368789C>T , CM000666.1:g.8368789C>T	GRCh37
NC_000004.10:g.8419689C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356406.10:c.2002G>A MANE Select	ENSP00000348775.4:p.Gly668Ser
ENST00000356406.9:c.2002G>A	ENSP00000348775.4:p.Gly668Ser
ENST00000413009.6:c.*59G>A	ENSP00000413994.2:n.*59G>A
ENST00000503233.5:c.2002G>A	ENSP00000421625.1:p.Gly668Ser
ENST00000512411.5:n.361G>A
ENST00000515797.5:n.274G>A
NM_001101667.1:c.*59G>A	NP_001095137.1:n.*59G>A
NM_003501.2:c.2002G>A	NP_003492.2:p.Gly668Ser
XM_005248011.3:c.2002G>A	XP_005248068.1:p.Gly668Ser
XM_005248012.3:c.1915G>A	XP_005248069.1:p.Gly639Ser
XM_005248013.3:c.*59G>A	XP_005248070.1:n.*59G>A
XM_011513565.1:c.2002G>A	XP_011511867.1:p.Gly668Ser
XM_011513566.1:c.1759G>A	XP_011511868.1:p.Gly587Ser
XR_925000.1:n.2592G>A
XM_005248011.4:c.2002G>A	XP_005248068.1:p.Gly668Ser
XM_011513565.2:c.2002G>A	XP_011511867.1:p.Gly668Ser
NM_003501.3:c.2002G>A MANE Select	NP_003492.2:p.Gly668Ser
NM_001101667.2:c.*59G>A	NP_001095137.1:n.*59G>A
NM_001375783.1:c.2002G>A	NP_001362712.1:p.Gly668Ser
NM_001375784.1:c.1930G>A	NP_001362713.1:p.Gly644Ser
NM_001375785.1:c.1915G>A	NP_001362714.1:p.Gly639Ser
NM_001375786.1:c.1915G>A	NP_001362715.1:p.Gly639Ser
NM_001375787.1:c.1984-180G>A	NP_001362716.1:n.1984-180G>A
NM_001375788.1:c.*59G>A	NP_001362717.1:n.*59G>A
NM_001375789.1:c.1717G>A	NP_001362718.1:p.Gly573Ser
NM_001375790.1:c.1672G>A	NP_001362719.1:p.Gly558Ser