Canonical Allele Identifier: CA204823

Gene: DGUOK

Linked Data

• ClinVar Variation Id: 208752
• ClinVar RCV Id: RCV000190772 ; RCV000482950 ; RCV000727394 ; RCV000779334 ; RCV002500582 ; RCV003955135
• dbSNP Id: rs184770596
• ExAC: 2:74166105 C / G
• gnomAD v2: 2-74166105-C-G
• gnomAD v3: 2-73938978-C-G
• gnomAD v4: 2-73938978-C-G
• MyVariant Identifiers: chr2:g.74166105C>G (hg19) ; chr2:g.73938978C>G (hg38)
• PubMed: PMID:25131622

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73938978C>G , CM000664.2:g.73938978C>G	GRCh38
NC_000002.11:g.74166105C>G , CM000664.1:g.74166105C>G	GRCh37
NC_000002.10:g.74019613C>G	NCBI36
NG_008044.1:g.17153C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264093.9:c.211C>G MANE Select	ENSP00000264093.4:p.Pro71Ala
ENST00000264093.8:c.211C>G	ENSP00000264093.4:p.Pro71Ala
ENST00000348222.3:c.211C>G	ENSP00000306964.3:p.Pro71Ala
ENST00000418996.5:c.143-7741C>G	ENSP00000408209.1:n.143-7741C>G
ENST00000462551.1:n.161-7741C>G
ENST00000462685.1:n.242+6295C>G
ENST00000489796.5:n.228C>G
ENST00000493055.1:n.214C>G
ENST00000629438.2:c.143-7741C>G	ENSP00000487122.1:n.143-7741C>G
NM_080916.2:c.211C>G	NP_550438.1:p.Pro71Ala
NM_080918.2:c.211C>G	NP_550440.1:p.Pro71Ala
XM_005264173.2:c.-36-7741C>G	XP_005264230.1:n.-36-7741C>G
XM_005264174.1:c.-37+6295C>G	XP_005264231.1:n.-37+6295C>G
XM_011532647.1:c.211C>G	XP_011530949.1:p.Pro71Ala
XM_011532648.1:c.-37+6295C>G	XP_011530950.1:n.-37+6295C>G
XR_244926.2:n.292C>G
NM_001318859.1:c.211C>G	NP_001305788.1:p.Pro71Ala
NM_001318860.1:c.-36-7741C>G	NP_001305789.1:n.-36-7741C>G
NM_001318861.1:c.-37+6295C>G	NP_001305790.1:n.-37+6295C>G
NM_001318862.1:c.-37+6295C>G	NP_001305791.1:n.-37+6295C>G
NM_001318863.1:c.-36-7741C>G	NP_001305792.1:n.-36-7741C>G
NR_134893.1:n.228-7741C>G
NR_134894.1:n.228-7741C>G
NR_134895.1:n.227+11926C>G
NR_134896.1:n.228-7741C>G
NR_134897.1:n.313+6295C>G
NR_134898.1:n.228-7741C>G
XM_011532647.2:c.211C>G	XP_011530949.1:p.Pro71Ala
XM_024452739.1:c.-81C>G	XP_024308507.1:n.-81C>G
XR_001738656.1:n.295C>G
XR_244926.3:n.294C>G
NM_080916.3:c.211C>G MANE Select	NP_550438.1:p.Pro71Ala
NM_001318859.2:c.211C>G	NP_001305788.1:p.Pro71Ala
NM_001318860.2:c.-36-7741C>G	NP_001305789.1:n.-36-7741C>G
NM_001318861.2:c.-37+6295C>G	NP_001305790.1:n.-37+6295C>G
NM_001318862.2:c.-37+6295C>G	NP_001305791.1:n.-37+6295C>G
NM_001318863.2:c.-36-7741C>G	NP_001305792.1:n.-36-7741C>G
NM_080918.3:c.211C>G	NP_550440.1:p.Pro71Ala
NR_134893.2:n.174-7741C>G
NR_134894.2:n.174-7741C>G
NR_134895.2:n.173+11926C>G
NR_134896.2:n.174-7741C>G
NR_134897.2:n.259+6295C>G
NR_134898.2:n.174-7741C>G