Canonical Allele Identifier: CA1718150

Gene: DGUOK

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73927040G>A , CM000664.2:g.73927040G>A	GRCh38
NC_000002.11:g.74154167G>A , CM000664.1:g.74154167G>A	GRCh37
NC_000002.10:g.74007675G>A	NCBI36
NG_008044.1:g.5215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.130G>A MANE Select	ENSP00000264093.4:p.Glu44Lys
ENST00000264093.8:c.130G>A	ENSP00000264093.4:p.Glu44Lys
ENST00000348222.3:c.130G>A	ENSP00000306964.3:p.Glu44Lys
ENST00000418996.5:c.130G>A	ENSP00000408209.1:p.Glu44Lys
ENST00000462551.1:n.148G>A
ENST00000462685.1:n.144G>A
ENST00000489796.5:n.147G>A
ENST00000493055.1:n.133G>A
ENST00000629438.2:c.130G>A	ENSP00000487122.1:p.Glu44Lys
NM_080916.2:c.130G>A	NP_550438.1:p.Glu44Lys
NM_080918.2:c.130G>A	NP_550440.1:p.Glu44Lys
XM_005264173.2:c.-49G>A	XP_005264230.1:n.-49G>A
XM_005264174.1:c.-135G>A	XP_005264231.1:n.-135G>A
XM_011532647.1:c.130G>A	XP_011530949.1:p.Glu44Lys
XM_011532648.1:c.-135G>A	XP_011530950.1:n.-135G>A
XR_244926.2:n.211G>A
NM_001318859.1:c.130G>A	NP_001305788.1:p.Glu44Lys
NM_001318860.1:c.-49G>A	NP_001305789.1:n.-49G>A
NM_001318861.1:c.-135G>A	NP_001305790.1:n.-135G>A
NM_001318862.1:c.-135G>A	NP_001305791.1:n.-135G>A
NM_001318863.1:c.-49G>A	NP_001305792.1:n.-49G>A
NR_134893.1:n.215G>A
NR_134894.1:n.215G>A
NR_134895.1:n.215G>A
NR_134896.1:n.215G>A
NR_134897.1:n.215G>A
NR_134898.1:n.215G>A
XM_011532647.2:c.130G>A	XP_011530949.1:p.Glu44Lys
XM_024452739.1:c.-248G>A	XP_024308507.1:n.-248G>A
XR_001738656.1:n.214G>A
XR_244926.3:n.213G>A
NM_080916.3:c.130G>A MANE Select	NP_550438.1:p.Glu44Lys
NM_001318859.2:c.130G>A	NP_001305788.1:p.Glu44Lys
NM_001318860.2:c.-49G>A	NP_001305789.1:n.-49G>A
NM_001318861.2:c.-135G>A	NP_001305790.1:n.-135G>A
NM_001318862.2:c.-135G>A	NP_001305791.1:n.-135G>A
NM_001318863.2:c.-49G>A	NP_001305792.1:n.-49G>A
NM_080918.3:c.130G>A	NP_550440.1:p.Glu44Lys
NR_134893.2:n.161G>A
NR_134894.2:n.161G>A
NR_134895.2:n.161G>A
NR_134896.2:n.161G>A
NR_134897.2:n.161G>A
NR_134898.2:n.161G>A