Canonical Allele Identifier: CA426797660

Gene: DGUOK DGUOK-AS1

Linked Data

• dbSNP Id: rs1353063366
• gnomAD v3: 2-73958180-C-T
• gnomAD v4: 2-73958180-C-T
• MyVariant Identifiers: chr2:g.74185307C>T (hg19) ; chr2:g.73958180C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958180C>T , CM000664.2:g.73958180C>T	GRCh38
NC_000002.11:g.74185307C>T , CM000664.1:g.74185307C>T	GRCh37
NC_000002.10:g.74038815C>T	NCBI36
NG_008044.1:g.36355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.742C>T (DGUOK) MANE Select	ENSP00000264093.4:p.Leu248=
ENST00000264093.8:c.742C>T (DGUOK)	ENSP00000264093.4:p.Leu248=
ENST00000348222.3:c.478C>T (DGUOK)	ENSP00000306964.3:p.Leu160=
ENST00000418996.5:c.*95C>T (DGUOK)	ENSP00000408209.1:n.*95C>T
ENST00000462685.1:n.571C>T (DGUOK)
ENST00000489796.5:n.627C>T (DGUOK)
ENST00000629438.2:c.*359C>T (DGUOK)	ENSP00000487122.1:n.*359C>T
NM_080916.2:c.742C>T (DGUOK)	NP_550438.1:p.Leu248=
NM_080918.2:c.478C>T (DGUOK)	NP_550440.1:p.Leu160=
NR_104029.1:n.359G>A (DGUOK-AS1)
NR_104030.1:n.333G>A (DGUOK-AS1)
XM_005264173.2:c.451C>T (DGUOK)	XP_005264230.1:p.Leu151=
XM_005264174.1:c.451C>T (DGUOK)	XP_005264231.1:p.Leu151=
XM_011532647.1:c.724C>T (DGUOK)	XP_011530949.1:p.Leu242=
XM_011532648.1:c.433C>T (DGUOK)	XP_011530950.1:p.Leu145=
XR_244926.2:n.707C>T (DGUOK)
NM_001318859.1:c.460C>T (DGUOK)	NP_001305788.1:p.Leu154=
NM_001318860.1:c.451C>T (DGUOK)	NP_001305789.1:p.Leu151=
NM_001318861.1:c.451C>T (DGUOK)	NP_001305790.1:p.Leu151=
NM_001318862.1:c.433C>T (DGUOK)	NP_001305791.1:p.Leu145=
NM_001318863.1:c.433C>T (DGUOK)	NP_001305792.1:p.Leu145=
NR_134893.1:n.450C>T (DGUOK)
NR_134894.1:n.598C>T (DGUOK)
NR_134895.1:n.262C>T (DGUOK)
NR_134896.1:n.432C>T (DGUOK)
NR_134897.1:n.642C>T (DGUOK)
NR_134898.1:n.566C>T (DGUOK)
XM_011532647.2:c.724C>T (DGUOK)	XP_011530949.1:p.Leu242=
XM_024452739.1:c.451C>T (DGUOK)	XP_024308507.1:p.Leu151=
XR_001738656.1:n.678C>T (DGUOK)
XR_244926.3:n.709C>T (DGUOK)
NM_080916.3:c.742C>T (DGUOK) MANE Select	NP_550438.1:p.Leu248=
NM_001318859.2:c.460C>T (DGUOK)	NP_001305788.1:p.Leu154=
NM_001318860.2:c.451C>T (DGUOK)	NP_001305789.1:p.Leu151=
NM_001318861.2:c.451C>T (DGUOK)	NP_001305790.1:p.Leu151=
NM_001318862.2:c.433C>T (DGUOK)	NP_001305791.1:p.Leu145=
NM_001318863.2:c.433C>T (DGUOK)	NP_001305792.1:p.Leu145=
NM_080918.3:c.478C>T (DGUOK)	NP_550440.1:p.Leu160=
NR_134893.2:n.396C>T (DGUOK)
NR_134894.2:n.544C>T (DGUOK)
NR_134895.2:n.208C>T (DGUOK)
NR_134896.2:n.378C>T (DGUOK)
NR_134897.2:n.588C>T (DGUOK)
NR_134898.2:n.512C>T (DGUOK)