Canonical Allele Identifier: CA1718318

Gene: DGUOK

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73957197C>T , CM000664.2:g.73957197C>T	GRCh38
NC_000002.11:g.74184324C>T , CM000664.1:g.74184324C>T	GRCh37
NC_000002.10:g.74037832C>T	NCBI36
NG_008044.1:g.35372C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.664C>T MANE Select	ENSP00000264093.4:p.Leu222=
ENST00000264093.8:c.664C>T	ENSP00000264093.4:p.Leu222=
ENST00000348222.3:c.444-949C>T	ENSP00000306964.3:n.444-949C>T
ENST00000418996.5:c.*61-949C>T	ENSP00000408209.1:n.*61-949C>T
ENST00000462685.1:n.537-949C>T
ENST00000489796.5:n.593-949C>T
ENST00000629438.2:c.*281C>T	ENSP00000487122.1:n.*281C>T
NM_080916.2:c.664C>T	NP_550438.1:p.Leu222=
NM_080918.2:c.444-949C>T	NP_550440.1:n.444-949C>T
XM_005264173.2:c.373C>T	XP_005264230.1:p.Leu125=
XM_005264174.1:c.373C>T	XP_005264231.1:p.Leu125=
XM_011532647.1:c.646C>T	XP_011530949.1:p.Leu216=
XM_011532648.1:c.355C>T	XP_011530950.1:p.Leu119=
XR_244926.2:n.673-949C>T
NM_001318859.1:c.426-949C>T	NP_001305788.1:n.426-949C>T
NM_001318860.1:c.373C>T	NP_001305789.1:p.Leu125=
NM_001318861.1:c.373C>T	NP_001305790.1:p.Leu125=
NM_001318862.1:c.355C>T	NP_001305791.1:p.Leu119=
NM_001318863.1:c.355C>T	NP_001305792.1:p.Leu119=
NR_134893.1:n.416-949C>T
NR_134894.1:n.564-949C>T
NR_134895.1:n.228-949C>T
NR_134896.1:n.398-949C>T
NR_134897.1:n.608-949C>T
NR_134898.1:n.488C>T
XM_011532647.2:c.646C>T	XP_011530949.1:p.Leu216=
XM_024452739.1:c.373C>T	XP_024308507.1:p.Leu125=
XR_001738656.1:n.600C>T
XR_244926.3:n.675-949C>T
NM_080916.3:c.664C>T MANE Select	NP_550438.1:p.Leu222=
NM_001318859.2:c.426-949C>T	NP_001305788.1:n.426-949C>T
NM_001318860.2:c.373C>T	NP_001305789.1:p.Leu125=
NM_001318861.2:c.373C>T	NP_001305790.1:p.Leu125=
NM_001318862.2:c.355C>T	NP_001305791.1:p.Leu119=
NM_001318863.2:c.355C>T	NP_001305792.1:p.Leu119=
NM_080918.3:c.444-949C>T	NP_550440.1:n.444-949C>T
NR_134893.2:n.362-949C>T
NR_134894.2:n.510-949C>T
NR_134895.2:n.174-949C>T
NR_134896.2:n.344-949C>T
NR_134897.2:n.554-949C>T
NR_134898.2:n.434C>T