Canonical Allele Identifier: CA347298810

Gene: DGUOK

Linked Data

• ClinVar Variation Id: 523553
• ClinVar RCV Id: RCV000626988 ; RCV001199234
• dbSNP Id: rs1553403624
• MyVariant Identifiers: chr2:g.74173868G>A (hg19) ; chr2:g.73946741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73946741G>A , CM000664.2:g.73946741G>A	GRCh38
NC_000002.11:g.74173868G>A , CM000664.1:g.74173868G>A	GRCh37
NC_000002.10:g.74027376G>A	NCBI36
NG_008044.1:g.24916G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.278G>A MANE Select	ENSP00000264093.4:p.Gly93Glu
ENST00000264093.8:c.278G>A	ENSP00000264093.4:p.Gly93Glu
ENST00000348222.3:c.278G>A	ENSP00000306964.3:p.Gly93Glu
ENST00000418996.5:c.165G>A	ENSP00000408209.1:p.Trp55Ter
ENST00000462551.1:n.183G>A
ENST00000462685.1:n.265G>A
ENST00000489796.5:n.295G>A
ENST00000493055.1:n.281G>A
ENST00000629438.2:c.165G>A	ENSP00000487122.1:p.Trp55Ter
NM_080916.2:c.278G>A	NP_550438.1:p.Gly93Glu
NM_080918.2:c.278G>A	NP_550440.1:p.Gly93Glu
XM_005264173.2:c.-14G>A	XP_005264230.1:n.-14G>A
XM_005264174.1:c.-14G>A	XP_005264231.1:n.-14G>A
XM_011532647.1:c.278G>A	XP_011530949.1:p.Gly93Glu
XM_011532648.1:c.-14G>A	XP_011530950.1:n.-14G>A
XR_244926.2:n.359G>A
NM_001318859.1:c.278G>A	NP_001305788.1:p.Gly93Glu
NM_001318860.1:c.-14G>A	NP_001305789.1:n.-14G>A
NM_001318861.1:c.-14G>A	NP_001305790.1:n.-14G>A
NM_001318862.1:c.-14G>A	NP_001305791.1:n.-14G>A
NM_001318863.1:c.-14G>A	NP_001305792.1:n.-14G>A
NR_134893.1:n.250G>A
NR_134894.1:n.250G>A
NR_134895.1:n.228-11405G>A
NR_134896.1:n.250G>A
NR_134897.1:n.336G>A
NR_134898.1:n.250G>A
XM_011532647.2:c.278G>A	XP_011530949.1:p.Gly93Glu
XM_024452739.1:c.-14G>A	XP_024308507.1:n.-14G>A
XR_001738656.1:n.362G>A
XR_244926.3:n.361G>A
NM_080916.3:c.278G>A MANE Select	NP_550438.1:p.Gly93Glu
NM_001318859.2:c.278G>A	NP_001305788.1:p.Gly93Glu
NM_001318860.2:c.-14G>A	NP_001305789.1:n.-14G>A
NM_001318861.2:c.-14G>A	NP_001305790.1:n.-14G>A
NM_001318862.2:c.-14G>A	NP_001305791.1:n.-14G>A
NM_001318863.2:c.-14G>A	NP_001305792.1:n.-14G>A
NM_080918.3:c.278G>A	NP_550440.1:p.Gly93Glu
NR_134893.2:n.196G>A
NR_134894.2:n.196G>A
NR_134895.2:n.174-11405G>A
NR_134896.2:n.196G>A
NR_134897.2:n.282G>A
NR_134898.2:n.196G>A