Canonical Allele Identifier: CA355941589
Gene: DGKQ HGNC NCBI

Linked Data

dbSNP Id: rs746541173
gnomAD v4: 4-970994-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.970994C>G , CM000666.2:g.970994C>G GRCh38
NC_000004.11:g.964782C>G , CM000666.1:g.964782C>G GRCh37
NC_000004.10:g.954782C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273814.8:c.350G>C MANE Select ENSP00000273814.3:p.Arg117Pro
ENST00000273814.7:c.350G>C ENSP00000273814.3:p.Arg117Pro
ENST00000509465.5:c.190G>C
ENST00000510286.1:c.125G>C ENSP00000427268.1:p.Arg42Pro
NM_001347.3:c.350G>C NP_001338.2:p.Arg117Pro
XM_011513411.1:c.350G>C XP_011511713.1:p.Arg117Pro
XM_011513412.1:c.350G>C XP_011511714.1:p.Arg117Pro
XM_011513413.1:c.350G>C XP_011511715.1:p.Arg117Pro
XM_011513414.1:c.350G>C XP_011511716.1:p.Arg117Pro
XM_011513415.1:c.350G>C XP_011511717.1:p.Arg117Pro
XM_011513414.2:c.350G>C XP_011511716.1:p.Arg117Pro
XM_017007814.1:c.350G>C XP_016863303.1:p.Arg117Pro
XM_017007815.1:c.350G>C XP_016863304.1:p.Arg117Pro
XR_002959715.1:n.413G>C
NM_001347.4:c.350G>C MANE Select NP_001338.2:p.Arg117Pro