Canonical Allele Identifier: CA347302039

Gene: DGUOK DGUOK-AS1

Linked Data

• MyVariant Identifiers: chr2:g.74185362T>A (hg19) ; chr2:g.73958235T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958235T>A , CM000664.2:g.73958235T>A	GRCh38
NC_000002.11:g.74185362T>A , CM000664.1:g.74185362T>A	GRCh37
NC_000002.10:g.74038870T>A	NCBI36
NG_008044.1:g.36410T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.797T>A (DGUOK) MANE Select	ENSP00000264093.4:p.Leu266His
ENST00000264093.8:c.797T>A (DGUOK)	ENSP00000264093.4:p.Leu266His
ENST00000348222.3:c.533T>A (DGUOK)	ENSP00000306964.3:p.Leu178His
ENST00000418996.5:c.*150T>A (DGUOK)	ENSP00000408209.1:n.*150T>A
ENST00000462685.1:n.626T>A (DGUOK)
ENST00000489796.5:n.682T>A (DGUOK)
ENST00000629438.2:c.*414T>A (DGUOK)	ENSP00000487122.1:n.*414T>A
NM_080916.2:c.797T>A (DGUOK)	NP_550438.1:p.Leu266His
NM_080918.2:c.533T>A (DGUOK)	NP_550440.1:p.Leu178His
NR_104029.1:n.332-28A>T (DGUOK-AS1)
NR_104030.1:n.306-28A>T (DGUOK-AS1)
XM_005264173.2:c.506T>A (DGUOK)	XP_005264230.1:p.Leu169His
XM_005264174.1:c.506T>A (DGUOK)	XP_005264231.1:p.Leu169His
XM_011532647.1:c.779T>A (DGUOK)	XP_011530949.1:p.Leu260His
XM_011532648.1:c.488T>A (DGUOK)	XP_011530950.1:p.Leu163His
XR_244926.2:n.762T>A (DGUOK)
NM_001318859.1:c.515T>A (DGUOK)	NP_001305788.1:p.Leu172His
NM_001318860.1:c.506T>A (DGUOK)	NP_001305789.1:p.Leu169His
NM_001318861.1:c.506T>A (DGUOK)	NP_001305790.1:p.Leu169His
NM_001318862.1:c.488T>A (DGUOK)	NP_001305791.1:p.Leu163His
NM_001318863.1:c.488T>A (DGUOK)	NP_001305792.1:p.Leu163His
NR_134893.1:n.505T>A (DGUOK)
NR_134894.1:n.653T>A (DGUOK)
NR_134895.1:n.317T>A (DGUOK)
NR_134896.1:n.487T>A (DGUOK)
NR_134897.1:n.697T>A (DGUOK)
NR_134898.1:n.621T>A (DGUOK)
XM_011532647.2:c.779T>A (DGUOK)	XP_011530949.1:p.Leu260His
XM_024452739.1:c.506T>A (DGUOK)	XP_024308507.1:p.Leu169His
XR_001738656.1:n.733T>A (DGUOK)
XR_244926.3:n.764T>A (DGUOK)
NM_080916.3:c.797T>A (DGUOK) MANE Select	NP_550438.1:p.Leu266His
NM_001318859.2:c.515T>A (DGUOK)	NP_001305788.1:p.Leu172His
NM_001318860.2:c.506T>A (DGUOK)	NP_001305789.1:p.Leu169His
NM_001318861.2:c.506T>A (DGUOK)	NP_001305790.1:p.Leu169His
NM_001318862.2:c.488T>A (DGUOK)	NP_001305791.1:p.Leu163His
NM_001318863.2:c.488T>A (DGUOK)	NP_001305792.1:p.Leu163His
NM_080918.3:c.533T>A (DGUOK)	NP_550440.1:p.Leu178His
NR_134893.2:n.451T>A (DGUOK)
NR_134894.2:n.599T>A (DGUOK)
NR_134895.2:n.263T>A (DGUOK)
NR_134896.2:n.433T>A (DGUOK)
NR_134897.2:n.643T>A (DGUOK)
NR_134898.2:n.567T>A (DGUOK)