Canonical Allele Identifier: CA347302076

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs1212291103
• MyVariant Identifiers: chr2:g.74185837G>C (hg19) ; chr2:g.73958710G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958710G>C , CM000664.2:g.73958710G>C	GRCh38
NC_000002.11:g.74185837G>C , CM000664.1:g.74185837G>C	GRCh37
NC_000002.10:g.74039345G>C	NCBI36
NG_008044.1:g.36885G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.808G>C (DGUOK) MANE Select	ENSP00000264093.4:p.Val270Leu
ENST00000264093.8:c.808G>C (DGUOK)	ENSP00000264093.4:p.Val270Leu
ENST00000348222.3:c.544G>C (DGUOK)	ENSP00000306964.3:p.Val182Leu
ENST00000418996.5:c.*161G>C (DGUOK)	ENSP00000408209.1:n.*161G>C
ENST00000462685.1:n.637G>C (DGUOK)
ENST00000629438.2:c.*425G>C (DGUOK)	ENSP00000487122.1:n.*425G>C
NM_080916.2:c.808G>C (DGUOK)	NP_550438.1:p.Val270Leu
NM_080918.2:c.544G>C (DGUOK)	NP_550440.1:p.Val182Leu
NR_104029.1:n.332-503C>G (DGUOK-AS1)
NR_104030.1:n.306-503C>G (DGUOK-AS1)
XM_005264173.2:c.517G>C (DGUOK)	XP_005264230.1:p.Val173Leu
XM_005264174.1:c.517G>C (DGUOK)	XP_005264231.1:p.Val173Leu
XM_011532647.1:c.790G>C (DGUOK)	XP_011530949.1:p.Val264Leu
XM_011532648.1:c.499G>C (DGUOK)	XP_011530950.1:p.Val167Leu
XR_244926.2:n.773G>C (DGUOK)
NM_001318859.1:c.526G>C (DGUOK)	NP_001305788.1:p.Val176Leu
NM_001318860.1:c.517G>C (DGUOK)	NP_001305789.1:p.Val173Leu
NM_001318861.1:c.517G>C (DGUOK)	NP_001305790.1:p.Val173Leu
NM_001318862.1:c.499G>C (DGUOK)	NP_001305791.1:p.Val167Leu
NM_001318863.1:c.499G>C (DGUOK)	NP_001305792.1:p.Val167Leu
NR_134893.1:n.516G>C (DGUOK)
NR_134894.1:n.664G>C (DGUOK)
NR_134895.1:n.328G>C (DGUOK)
NR_134896.1:n.498G>C (DGUOK)
NR_134897.1:n.708G>C (DGUOK)
NR_134898.1:n.632G>C (DGUOK)
XM_011532647.2:c.790G>C (DGUOK)	XP_011530949.1:p.Val264Leu
XM_024452739.1:c.517G>C (DGUOK)	XP_024308507.1:p.Val173Leu
XR_001738656.1:n.744G>C (DGUOK)
XR_244926.3:n.775G>C (DGUOK)
NM_080916.3:c.808G>C (DGUOK) MANE Select	NP_550438.1:p.Val270Leu
NM_001318859.2:c.526G>C (DGUOK)	NP_001305788.1:p.Val176Leu
NM_001318860.2:c.517G>C (DGUOK)	NP_001305789.1:p.Val173Leu
NM_001318861.2:c.517G>C (DGUOK)	NP_001305790.1:p.Val173Leu
NM_001318862.2:c.499G>C (DGUOK)	NP_001305791.1:p.Val167Leu
NM_001318863.2:c.499G>C (DGUOK)	NP_001305792.1:p.Val167Leu
NM_080918.3:c.544G>C (DGUOK)	NP_550440.1:p.Val182Leu
NR_134893.2:n.462G>C (DGUOK)
NR_134894.2:n.610G>C (DGUOK)
NR_134895.2:n.274G>C (DGUOK)
NR_134896.2:n.444G>C (DGUOK)
NR_134897.2:n.654G>C (DGUOK)
NR_134898.2:n.578G>C (DGUOK)