Canonical Allele Identifier: CA1718113

Gene: DGUOK

Linked Data

• ClinVar Variation Id: 337043
• ClinVar RCV Id: RCV000314692 ; RCV003932340
• dbSNP Id: rs369681767
• ExAC: 2:74154030 T / C
• gnomAD v2: 2-74154030-T-C
• gnomAD v3: 2-73926903-T-C
• gnomAD v4: 2-73926903-T-C
• MyVariant Identifiers: chr2:g.74154030T>C (hg19) ; chr2:g.73926903T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73926903T>C , CM000664.2:g.73926903T>C	GRCh38
NC_000002.11:g.74154030T>C , CM000664.1:g.74154030T>C	GRCh37
NC_000002.10:g.74007538T>C	NCBI36
NG_008044.1:g.5078T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.-8T>C MANE Select	ENSP00000264093.4:n.-8T>C
ENST00000264093.8:c.-8T>C	ENSP00000264093.4:n.-8T>C
ENST00000348222.3:c.-8T>C	ENSP00000306964.3:n.-8T>C
ENST00000418996.5:c.-8T>C	ENSP00000408209.1:n.-8T>C
ENST00000462551.1:n.11T>C
ENST00000462685.1:n.7T>C
ENST00000489796.5:n.10T>C
ENST00000629438.2:c.-8T>C	ENSP00000487122.1:n.-8T>C
NM_080916.2:c.-8T>C	NP_550438.1:n.-8T>C
NM_080918.2:c.-8T>C	NP_550440.1:n.-8T>C
XM_005264173.2:c.-186T>C	XP_005264230.1:n.-186T>C
XM_011532647.1:c.-8T>C	XP_011530949.1:n.-8T>C
XM_011532648.1:c.-272T>C	XP_011530950.1:n.-272T>C
XR_244926.2:n.74T>C
NM_001318859.1:c.-8T>C	NP_001305788.1:n.-8T>C
NM_001318860.1:c.-186T>C	NP_001305789.1:n.-186T>C
NM_001318861.1:c.-272T>C	NP_001305790.1:n.-272T>C
NM_001318862.1:c.-272T>C	NP_001305791.1:n.-272T>C
NM_001318863.1:c.-186T>C	NP_001305792.1:n.-186T>C
NR_134893.1:n.78T>C
NR_134894.1:n.78T>C
NR_134895.1:n.78T>C
NR_134896.1:n.78T>C
NR_134897.1:n.78T>C
NR_134898.1:n.78T>C
XM_011532647.2:c.-8T>C	XP_011530949.1:n.-8T>C
XM_024452739.1:c.-385T>C	XP_024308507.1:n.-385T>C
XR_001738656.1:n.77T>C
XR_244926.3:n.76T>C
NM_080916.3:c.-8T>C MANE Select	NP_550438.1:n.-8T>C
NM_001318859.2:c.-8T>C	NP_001305788.1:n.-8T>C
NM_001318860.2:c.-186T>C	NP_001305789.1:n.-186T>C
NM_001318861.2:c.-272T>C	NP_001305790.1:n.-272T>C
NM_001318862.2:c.-272T>C	NP_001305791.1:n.-272T>C
NM_001318863.2:c.-186T>C	NP_001305792.1:n.-186T>C
NM_080918.3:c.-8T>C	NP_550440.1:n.-8T>C
NR_134893.2:n.24T>C
NR_134894.2:n.24T>C
NR_134895.2:n.24T>C
NR_134896.2:n.24T>C
NR_134897.2:n.24T>C
NR_134898.2:n.24T>C