Canonical Allele Identifier: CA347301944

Gene: DGUOK DGUOK-AS1

Linked Data

• MyVariant Identifiers: chr2:g.74185320T>C (hg19) ; chr2:g.73958193T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958193T>C , CM000664.2:g.73958193T>C	GRCh38
NC_000002.11:g.74185320T>C , CM000664.1:g.74185320T>C	GRCh37
NC_000002.10:g.74038828T>C	NCBI36
NG_008044.1:g.36368T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.755T>C (DGUOK) MANE Select	ENSP00000264093.4:p.Val252Ala
ENST00000264093.8:c.755T>C (DGUOK)	ENSP00000264093.4:p.Val252Ala
ENST00000348222.3:c.491T>C (DGUOK)	ENSP00000306964.3:p.Val164Ala
ENST00000418996.5:c.*108T>C (DGUOK)	ENSP00000408209.1:n.*108T>C
ENST00000462685.1:n.584T>C (DGUOK)
ENST00000489796.5:n.640T>C (DGUOK)
ENST00000629438.2:c.*372T>C (DGUOK)	ENSP00000487122.1:n.*372T>C
NM_080916.2:c.755T>C (DGUOK)	NP_550438.1:p.Val252Ala
NM_080918.2:c.491T>C (DGUOK)	NP_550440.1:p.Val164Ala
NR_104029.1:n.346A>G (DGUOK-AS1)
NR_104030.1:n.320A>G (DGUOK-AS1)
XM_005264173.2:c.464T>C (DGUOK)	XP_005264230.1:p.Val155Ala
XM_005264174.1:c.464T>C (DGUOK)	XP_005264231.1:p.Val155Ala
XM_011532647.1:c.737T>C (DGUOK)	XP_011530949.1:p.Val246Ala
XM_011532648.1:c.446T>C (DGUOK)	XP_011530950.1:p.Val149Ala
XR_244926.2:n.720T>C (DGUOK)
NM_001318859.1:c.473T>C (DGUOK)	NP_001305788.1:p.Val158Ala
NM_001318860.1:c.464T>C (DGUOK)	NP_001305789.1:p.Val155Ala
NM_001318861.1:c.464T>C (DGUOK)	NP_001305790.1:p.Val155Ala
NM_001318862.1:c.446T>C (DGUOK)	NP_001305791.1:p.Val149Ala
NM_001318863.1:c.446T>C (DGUOK)	NP_001305792.1:p.Val149Ala
NR_134893.1:n.463T>C (DGUOK)
NR_134894.1:n.611T>C (DGUOK)
NR_134895.1:n.275T>C (DGUOK)
NR_134896.1:n.445T>C (DGUOK)
NR_134897.1:n.655T>C (DGUOK)
NR_134898.1:n.579T>C (DGUOK)
XM_011532647.2:c.737T>C (DGUOK)	XP_011530949.1:p.Val246Ala
XM_024452739.1:c.464T>C (DGUOK)	XP_024308507.1:p.Val155Ala
XR_001738656.1:n.691T>C (DGUOK)
XR_244926.3:n.722T>C (DGUOK)
NM_080916.3:c.755T>C (DGUOK) MANE Select	NP_550438.1:p.Val252Ala
NM_001318859.2:c.473T>C (DGUOK)	NP_001305788.1:p.Val158Ala
NM_001318860.2:c.464T>C (DGUOK)	NP_001305789.1:p.Val155Ala
NM_001318861.2:c.464T>C (DGUOK)	NP_001305790.1:p.Val155Ala
NM_001318862.2:c.446T>C (DGUOK)	NP_001305791.1:p.Val149Ala
NM_001318863.2:c.446T>C (DGUOK)	NP_001305792.1:p.Val149Ala
NM_080918.3:c.491T>C (DGUOK)	NP_550440.1:p.Val164Ala
NR_134893.2:n.409T>C (DGUOK)
NR_134894.2:n.557T>C (DGUOK)
NR_134895.2:n.221T>C (DGUOK)
NR_134896.2:n.391T>C (DGUOK)
NR_134897.2:n.601T>C (DGUOK)
NR_134898.2:n.525T>C (DGUOK)