Canonical Allele Identifier: CA347301923

Gene: DGUOK DGUOK-AS1

Linked Data

• gnomAD v4: 2-73958184-T-C
• MyVariant Identifiers: chr2:g.74185311T>C (hg19) ; chr2:g.73958184T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958184T>C , CM000664.2:g.73958184T>C	GRCh38
NC_000002.11:g.74185311T>C , CM000664.1:g.74185311T>C	GRCh37
NC_000002.10:g.74038819T>C	NCBI36
NG_008044.1:g.36359T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.746T>C (DGUOK) MANE Select	ENSP00000264093.4:p.Val249Ala
ENST00000264093.8:c.746T>C (DGUOK)	ENSP00000264093.4:p.Val249Ala
ENST00000348222.3:c.482T>C (DGUOK)	ENSP00000306964.3:p.Val161Ala
ENST00000418996.5:c.*99T>C (DGUOK)	ENSP00000408209.1:n.*99T>C
ENST00000462685.1:n.575T>C (DGUOK)
ENST00000489796.5:n.631T>C (DGUOK)
ENST00000629438.2:c.*363T>C (DGUOK)	ENSP00000487122.1:n.*363T>C
NM_080916.2:c.746T>C (DGUOK)	NP_550438.1:p.Val249Ala
NM_080918.2:c.482T>C (DGUOK)	NP_550440.1:p.Val161Ala
NR_104029.1:n.355A>G (DGUOK-AS1)
NR_104030.1:n.329A>G (DGUOK-AS1)
XM_005264173.2:c.455T>C (DGUOK)	XP_005264230.1:p.Val152Ala
XM_005264174.1:c.455T>C (DGUOK)	XP_005264231.1:p.Val152Ala
XM_011532647.1:c.728T>C (DGUOK)	XP_011530949.1:p.Val243Ala
XM_011532648.1:c.437T>C (DGUOK)	XP_011530950.1:p.Val146Ala
XR_244926.2:n.711T>C (DGUOK)
NM_001318859.1:c.464T>C (DGUOK)	NP_001305788.1:p.Val155Ala
NM_001318860.1:c.455T>C (DGUOK)	NP_001305789.1:p.Val152Ala
NM_001318861.1:c.455T>C (DGUOK)	NP_001305790.1:p.Val152Ala
NM_001318862.1:c.437T>C (DGUOK)	NP_001305791.1:p.Val146Ala
NM_001318863.1:c.437T>C (DGUOK)	NP_001305792.1:p.Val146Ala
NR_134893.1:n.454T>C (DGUOK)
NR_134894.1:n.602T>C (DGUOK)
NR_134895.1:n.266T>C (DGUOK)
NR_134896.1:n.436T>C (DGUOK)
NR_134897.1:n.646T>C (DGUOK)
NR_134898.1:n.570T>C (DGUOK)
XM_011532647.2:c.728T>C (DGUOK)	XP_011530949.1:p.Val243Ala
XM_024452739.1:c.455T>C (DGUOK)	XP_024308507.1:p.Val152Ala
XR_001738656.1:n.682T>C (DGUOK)
XR_244926.3:n.713T>C (DGUOK)
NM_080916.3:c.746T>C (DGUOK) MANE Select	NP_550438.1:p.Val249Ala
NM_001318859.2:c.464T>C (DGUOK)	NP_001305788.1:p.Val155Ala
NM_001318860.2:c.455T>C (DGUOK)	NP_001305789.1:p.Val152Ala
NM_001318861.2:c.455T>C (DGUOK)	NP_001305790.1:p.Val152Ala
NM_001318862.2:c.437T>C (DGUOK)	NP_001305791.1:p.Val146Ala
NM_001318863.2:c.437T>C (DGUOK)	NP_001305792.1:p.Val146Ala
NM_080918.3:c.482T>C (DGUOK)	NP_550440.1:p.Val161Ala
NR_134893.2:n.400T>C (DGUOK)
NR_134894.2:n.548T>C (DGUOK)
NR_134895.2:n.212T>C (DGUOK)
NR_134896.2:n.382T>C (DGUOK)
NR_134897.2:n.592T>C (DGUOK)
NR_134898.2:n.516T>C (DGUOK)