Canonical Allele Identifier: CA426797649
Gene: DGUOK HGNC NCBI
DGUOK-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.74185291G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73958164G>C , CM000664.2:g.73958164G>C GRCh38
NC_000002.11:g.74185291G>C , CM000664.1:g.74185291G>C GRCh37
NC_000002.10:g.74038799G>C NCBI36
NG_008044.1:g.36339G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264093.9:c.726G>C (DGUOK) MANE Select ENSP00000264093.4:p.Leu242=
ENST00000264093.8:c.726G>C (DGUOK) ENSP00000264093.4:p.Leu242=
ENST00000348222.3:c.462G>C (DGUOK) ENSP00000306964.3:p.Leu154=
ENST00000418996.5:c.*79G>C (DGUOK) ENSP00000408209.1:n.*79G>C
ENST00000462685.1:n.555G>C (DGUOK)
ENST00000489796.5:n.611G>C (DGUOK)
ENST00000629438.2:c.*343G>C (DGUOK) ENSP00000487122.1:n.*343G>C
NM_080916.2:c.726G>C (DGUOK) NP_550438.1:p.Leu242=
NM_080918.2:c.462G>C (DGUOK) NP_550440.1:p.Leu154=
NR_104029.1:n.375C>G (DGUOK-AS1)
NR_104030.1:n.349C>G (DGUOK-AS1)
XM_005264173.2:c.435G>C (DGUOK) XP_005264230.1:p.Leu145=
XM_005264174.1:c.435G>C (DGUOK) XP_005264231.1:p.Leu145=
XM_011532647.1:c.708G>C (DGUOK) XP_011530949.1:p.Leu236=
XM_011532648.1:c.417G>C (DGUOK) XP_011530950.1:p.Leu139=
XR_244926.2:n.691G>C (DGUOK)
NM_001318859.1:c.444G>C (DGUOK) NP_001305788.1:p.Leu148=
NM_001318860.1:c.435G>C (DGUOK) NP_001305789.1:p.Leu145=
NM_001318861.1:c.435G>C (DGUOK) NP_001305790.1:p.Leu145=
NM_001318862.1:c.417G>C (DGUOK) NP_001305791.1:p.Leu139=
NM_001318863.1:c.417G>C (DGUOK) NP_001305792.1:p.Leu139=
NR_134893.1:n.434G>C (DGUOK)
NR_134894.1:n.582G>C (DGUOK)
NR_134895.1:n.246G>C (DGUOK)
NR_134896.1:n.416G>C (DGUOK)
NR_134897.1:n.626G>C (DGUOK)
NR_134898.1:n.550G>C (DGUOK)
XM_011532647.2:c.708G>C (DGUOK) XP_011530949.1:p.Leu236=
XM_024452739.1:c.435G>C (DGUOK) XP_024308507.1:p.Leu145=
XR_001738656.1:n.662G>C (DGUOK)
XR_244926.3:n.693G>C (DGUOK)
NM_080916.3:c.726G>C (DGUOK) MANE Select NP_550438.1:p.Leu242=
NM_001318859.2:c.444G>C (DGUOK) NP_001305788.1:p.Leu148=
NM_001318860.2:c.435G>C (DGUOK) NP_001305789.1:p.Leu145=
NM_001318861.2:c.435G>C (DGUOK) NP_001305790.1:p.Leu145=
NM_001318862.2:c.417G>C (DGUOK) NP_001305791.1:p.Leu139=
NM_001318863.2:c.417G>C (DGUOK) NP_001305792.1:p.Leu139=
NM_080918.3:c.462G>C (DGUOK) NP_550440.1:p.Leu154=
NR_134893.2:n.380G>C (DGUOK)
NR_134894.2:n.528G>C (DGUOK)
NR_134895.2:n.192G>C (DGUOK)
NR_134896.2:n.362G>C (DGUOK)
NR_134897.2:n.572G>C (DGUOK)
NR_134898.2:n.496G>C (DGUOK)