Canonical Allele Identifier: CA347301899

Gene: DGUOK DGUOK-AS1

Linked Data

• MyVariant Identifiers: chr2:g.74185298A>C (hg19) ; chr2:g.73958171A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73958171A>C , CM000664.2:g.73958171A>C	GRCh38
NC_000002.11:g.74185298A>C , CM000664.1:g.74185298A>C	GRCh37
NC_000002.10:g.74038806A>C	NCBI36
NG_008044.1:g.36346A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.733A>C (DGUOK) MANE Select	ENSP00000264093.4:p.Ile245Leu
ENST00000264093.8:c.733A>C (DGUOK)	ENSP00000264093.4:p.Ile245Leu
ENST00000348222.3:c.469A>C (DGUOK)	ENSP00000306964.3:p.Ile157Leu
ENST00000418996.5:c.*86A>C (DGUOK)	ENSP00000408209.1:n.*86A>C
ENST00000462685.1:n.562A>C (DGUOK)
ENST00000489796.5:n.618A>C (DGUOK)
ENST00000629438.2:c.*350A>C (DGUOK)	ENSP00000487122.1:n.*350A>C
NM_080916.2:c.733A>C (DGUOK)	NP_550438.1:p.Ile245Leu
NM_080918.2:c.469A>C (DGUOK)	NP_550440.1:p.Ile157Leu
NR_104029.1:n.368T>G (DGUOK-AS1)
NR_104030.1:n.342T>G (DGUOK-AS1)
XM_005264173.2:c.442A>C (DGUOK)	XP_005264230.1:p.Ile148Leu
XM_005264174.1:c.442A>C (DGUOK)	XP_005264231.1:p.Ile148Leu
XM_011532647.1:c.715A>C (DGUOK)	XP_011530949.1:p.Ile239Leu
XM_011532648.1:c.424A>C (DGUOK)	XP_011530950.1:p.Ile142Leu
XR_244926.2:n.698A>C (DGUOK)
NM_001318859.1:c.451A>C (DGUOK)	NP_001305788.1:p.Ile151Leu
NM_001318860.1:c.442A>C (DGUOK)	NP_001305789.1:p.Ile148Leu
NM_001318861.1:c.442A>C (DGUOK)	NP_001305790.1:p.Ile148Leu
NM_001318862.1:c.424A>C (DGUOK)	NP_001305791.1:p.Ile142Leu
NM_001318863.1:c.424A>C (DGUOK)	NP_001305792.1:p.Ile142Leu
NR_134893.1:n.441A>C (DGUOK)
NR_134894.1:n.589A>C (DGUOK)
NR_134895.1:n.253A>C (DGUOK)
NR_134896.1:n.423A>C (DGUOK)
NR_134897.1:n.633A>C (DGUOK)
NR_134898.1:n.557A>C (DGUOK)
XM_011532647.2:c.715A>C (DGUOK)	XP_011530949.1:p.Ile239Leu
XM_024452739.1:c.442A>C (DGUOK)	XP_024308507.1:p.Ile148Leu
XR_001738656.1:n.669A>C (DGUOK)
XR_244926.3:n.700A>C (DGUOK)
NM_080916.3:c.733A>C (DGUOK) MANE Select	NP_550438.1:p.Ile245Leu
NM_001318859.2:c.451A>C (DGUOK)	NP_001305788.1:p.Ile151Leu
NM_001318860.2:c.442A>C (DGUOK)	NP_001305789.1:p.Ile148Leu
NM_001318861.2:c.442A>C (DGUOK)	NP_001305790.1:p.Ile148Leu
NM_001318862.2:c.424A>C (DGUOK)	NP_001305791.1:p.Ile142Leu
NM_001318863.2:c.424A>C (DGUOK)	NP_001305792.1:p.Ile142Leu
NM_080918.3:c.469A>C (DGUOK)	NP_550440.1:p.Ile157Leu
NR_134893.2:n.387A>C (DGUOK)
NR_134894.2:n.535A>C (DGUOK)
NR_134895.2:n.199A>C (DGUOK)
NR_134896.2:n.369A>C (DGUOK)
NR_134897.2:n.579A>C (DGUOK)
NR_134898.2:n.503A>C (DGUOK)