Canonical Allele Identifier: CA347301861

Gene: DGUOK DGUOK-AS1

Linked Data

• MyVariant Identifiers: chr2:g.74185282T>A (hg19) ; chr2:g.73958155T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958155T>A , CM000664.2:g.73958155T>A	GRCh38
NC_000002.11:g.74185282T>A , CM000664.1:g.74185282T>A	GRCh37
NC_000002.10:g.74038790T>A	NCBI36
NG_008044.1:g.36330T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.717T>A (DGUOK) MANE Select	ENSP00000264093.4:p.Phe239Leu
ENST00000264093.8:c.717T>A (DGUOK)	ENSP00000264093.4:p.Phe239Leu
ENST00000348222.3:c.453T>A (DGUOK)	ENSP00000306964.3:p.Phe151Leu
ENST00000418996.5:c.*70T>A (DGUOK)	ENSP00000408209.1:n.*70T>A
ENST00000462685.1:n.546T>A (DGUOK)
ENST00000489796.5:n.602T>A (DGUOK)
ENST00000629438.2:c.*334T>A (DGUOK)	ENSP00000487122.1:n.*334T>A
NM_080916.2:c.717T>A (DGUOK)	NP_550438.1:p.Phe239Leu
NM_080918.2:c.453T>A (DGUOK)	NP_550440.1:p.Phe151Leu
NR_104029.1:n.384A>T (DGUOK-AS1)
NR_104030.1:n.358A>T (DGUOK-AS1)
XM_005264173.2:c.426T>A (DGUOK)	XP_005264230.1:p.Phe142Leu
XM_005264174.1:c.426T>A (DGUOK)	XP_005264231.1:p.Phe142Leu
XM_011532647.1:c.699T>A (DGUOK)	XP_011530949.1:p.Phe233Leu
XM_011532648.1:c.408T>A (DGUOK)	XP_011530950.1:p.Phe136Leu
XR_244926.2:n.682T>A (DGUOK)
NM_001318859.1:c.435T>A (DGUOK)	NP_001305788.1:p.Phe145Leu
NM_001318860.1:c.426T>A (DGUOK)	NP_001305789.1:p.Phe142Leu
NM_001318861.1:c.426T>A (DGUOK)	NP_001305790.1:p.Phe142Leu
NM_001318862.1:c.408T>A (DGUOK)	NP_001305791.1:p.Phe136Leu
NM_001318863.1:c.408T>A (DGUOK)	NP_001305792.1:p.Phe136Leu
NR_134893.1:n.425T>A (DGUOK)
NR_134894.1:n.573T>A (DGUOK)
NR_134895.1:n.237T>A (DGUOK)
NR_134896.1:n.407T>A (DGUOK)
NR_134897.1:n.617T>A (DGUOK)
NR_134898.1:n.541T>A (DGUOK)
XM_011532647.2:c.699T>A (DGUOK)	XP_011530949.1:p.Phe233Leu
XM_024452739.1:c.426T>A (DGUOK)	XP_024308507.1:p.Phe142Leu
XR_001738656.1:n.653T>A (DGUOK)
XR_244926.3:n.684T>A (DGUOK)
NM_080916.3:c.717T>A (DGUOK) MANE Select	NP_550438.1:p.Phe239Leu
NM_001318859.2:c.435T>A (DGUOK)	NP_001305788.1:p.Phe145Leu
NM_001318860.2:c.426T>A (DGUOK)	NP_001305789.1:p.Phe142Leu
NM_001318861.2:c.426T>A (DGUOK)	NP_001305790.1:p.Phe142Leu
NM_001318862.2:c.408T>A (DGUOK)	NP_001305791.1:p.Phe136Leu
NM_001318863.2:c.408T>A (DGUOK)	NP_001305792.1:p.Phe136Leu
NM_080918.3:c.453T>A (DGUOK)	NP_550440.1:p.Phe151Leu
NR_134893.2:n.371T>A (DGUOK)
NR_134894.2:n.519T>A (DGUOK)
NR_134895.2:n.183T>A (DGUOK)
NR_134896.2:n.353T>A (DGUOK)
NR_134897.2:n.563T>A (DGUOK)
NR_134898.2:n.487T>A (DGUOK)