Canonical Allele Identifier: CA246251

Gene: DGUOK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73957163G>A , CM000664.2:g.73957163G>A	GRCh38
NC_000002.11:g.74184290G>A , CM000664.1:g.74184290G>A	GRCh37
NC_000002.10:g.74037798G>A	NCBI36
NG_008044.1:g.35338G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_080916.3:c.630G>A MANE Select	NP_550438.1:p.Glu210=
ENST00000264093.9:c.630G>A MANE Select	ENSP00000264093.4:p.Glu210=
NM_001318859.1:c.426-983G>A	NP_001305788.1:n.426-983G>A
NM_001318859.2:c.426-983G>A	NP_001305788.1:n.426-983G>A
NM_001318860.1:c.339G>A	NP_001305789.1:p.Glu113=
NM_001318860.2:c.339G>A	NP_001305789.1:p.Glu113=
NM_001318861.1:c.339G>A	NP_001305790.1:p.Glu113=
NM_001318861.2:c.339G>A	NP_001305790.1:p.Glu113=
NM_001318862.1:c.321G>A	NP_001305791.1:p.Glu107=
NM_001318862.2:c.321G>A	NP_001305791.1:p.Glu107=
NM_001318863.1:c.321G>A	NP_001305792.1:p.Glu107=
NM_001318863.2:c.321G>A	NP_001305792.1:p.Glu107=
NM_080916.2:c.630G>A	NP_550438.1:p.Glu210=
NM_080918.2:c.444-983G>A	NP_550440.1:n.444-983G>A
NM_080918.3:c.444-983G>A	NP_550440.1:n.444-983G>A
NR_134893.1:n.416-983G>A
NR_134893.2:n.362-983G>A
NR_134894.1:n.564-983G>A
NR_134894.2:n.510-983G>A
NR_134895.1:n.228-983G>A
NR_134895.2:n.174-983G>A
NR_134896.1:n.398-983G>A
NR_134896.2:n.344-983G>A
NR_134897.1:n.608-983G>A
NR_134897.2:n.554-983G>A
NR_134898.1:n.454G>A
NR_134898.2:n.400G>A
ENST00000264093.8:c.630G>A	ENSP00000264093.4:p.Glu210=
ENST00000348222.3:c.444-983G>A	ENSP00000306964.3:n.444-983G>A
ENST00000418996.5:c.*61-983G>A	ENSP00000408209.1:n.*61-983G>A
ENST00000462685.1:n.537-983G>A
ENST00000489796.5:n.593-983G>A
ENST00000629438.2:c.*247G>A	ENSP00000487122.1:n.*247G>A
XM_005264173.2:c.339G>A	XP_005264230.1:p.Glu113=
XM_005264174.1:c.339G>A	XP_005264231.1:p.Glu113=
XM_011532647.1:c.612G>A	XP_011530949.1:p.Glu204=
XM_011532647.2:c.612G>A	XP_011530949.1:p.Glu204=
XM_011532648.1:c.321G>A	XP_011530950.1:p.Glu107=
XM_024452739.1:c.339G>A	XP_024308507.1:p.Glu113=
XR_001738656.1:n.566G>A
XR_244926.2:n.673-983G>A
XR_244926.3:n.675-983G>A