Canonical Allele Identifier: CA10575453

Gene: DGUOK

Linked Data

• ClinVar Variation Id: 286174
• ClinVar RCV Id: RCV000330566 ; RCV003930119
• dbSNP Id: rs150678946
• gnomAD v2: 2-74173943-G-A
• gnomAD v3: 2-73946816-G-A
• gnomAD v4: 2-73946816-G-A
• MyVariant Identifiers: chr2:g.74173943G>A (hg19) ; chr2:g.73946816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73946816G>A , CM000664.2:g.73946816G>A	GRCh38
NC_000002.11:g.74173943G>A , CM000664.1:g.74173943G>A	GRCh37
NC_000002.10:g.74027451G>A	NCBI36
NG_008044.1:g.24991G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264093.9:c.353G>A MANE Select	ENSP00000264093.4:p.Arg118His
ENST00000264093.8:c.353G>A	ENSP00000264093.4:p.Arg118His
ENST00000348222.3:c.353G>A	ENSP00000306964.3:p.Arg118His
ENST00000418996.5:c.240G>A	ENSP00000408209.1:p.Pro80=
ENST00000462551.1:n.258G>A
ENST00000462685.1:n.340G>A
ENST00000489796.5:n.370G>A
ENST00000493055.1:n.356G>A
ENST00000629438.2:c.240G>A	ENSP00000487122.1:p.Pro80=
NM_080916.2:c.353G>A	NP_550438.1:p.Arg118His
NM_080918.2:c.353G>A	NP_550440.1:p.Arg118His
XM_005264173.2:c.62G>A	XP_005264230.1:p.Arg21His
XM_005264174.1:c.62G>A	XP_005264231.1:p.Arg21His
XM_011532647.1:c.353G>A	XP_011530949.1:p.Arg118His
XM_011532648.1:c.62G>A	XP_011530950.1:p.Arg21His
XR_244926.2:n.434G>A
NM_001318859.1:c.353G>A	NP_001305788.1:p.Arg118His
NM_001318860.1:c.62G>A	NP_001305789.1:p.Arg21His
NM_001318861.1:c.62G>A	NP_001305790.1:p.Arg21His
NM_001318862.1:c.62G>A	NP_001305791.1:p.Arg21His
NM_001318863.1:c.62G>A	NP_001305792.1:p.Arg21His
NR_134893.1:n.325G>A
NR_134894.1:n.325G>A
NR_134895.1:n.228-11330G>A
NR_134896.1:n.325G>A
NR_134897.1:n.411G>A
NR_134898.1:n.325G>A
XM_011532647.2:c.353G>A	XP_011530949.1:p.Arg118His
XM_024452739.1:c.62G>A	XP_024308507.1:p.Arg21His
XR_001738656.1:n.437G>A
XR_244926.3:n.436G>A
NM_080916.3:c.353G>A MANE Select	NP_550438.1:p.Arg118His
NM_001318859.2:c.353G>A	NP_001305788.1:p.Arg118His
NM_001318860.2:c.62G>A	NP_001305789.1:p.Arg21His
NM_001318861.2:c.62G>A	NP_001305790.1:p.Arg21His
NM_001318862.2:c.62G>A	NP_001305791.1:p.Arg21His
NM_001318863.2:c.62G>A	NP_001305792.1:p.Arg21His
NM_080918.3:c.353G>A	NP_550440.1:p.Arg118His
NR_134893.2:n.271G>A
NR_134894.2:n.271G>A
NR_134895.2:n.174-11330G>A
NR_134896.2:n.271G>A
NR_134897.2:n.357G>A
NR_134898.2:n.271G>A