Canonical Allele Identifier: CA355941666
Gene: DGKQ HGNC NCBI

Linked Data

dbSNP Id: rs1294434744
gnomAD v3: 4-971031-T-C
gnomAD v4: 4-971031-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.971031T>C , CM000666.2:g.971031T>C GRCh38
NC_000004.11:g.964819T>C , CM000666.1:g.964819T>C GRCh37
NC_000004.10:g.954819T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273814.8:c.313A>G MANE Select ENSP00000273814.3:p.Arg105Gly
ENST00000273814.7:c.313A>G ENSP00000273814.3:p.Arg105Gly
ENST00000509465.5:c.153A>G
ENST00000510286.1:c.88A>G ENSP00000427268.1:p.Arg30Gly
NM_001347.3:c.313A>G NP_001338.2:p.Arg105Gly
XM_011513411.1:c.313A>G XP_011511713.1:p.Arg105Gly
XM_011513412.1:c.313A>G XP_011511714.1:p.Arg105Gly
XM_011513413.1:c.313A>G XP_011511715.1:p.Arg105Gly
XM_011513414.1:c.313A>G XP_011511716.1:p.Arg105Gly
XM_011513415.1:c.313A>G XP_011511717.1:p.Arg105Gly
XM_011513414.2:c.313A>G XP_011511716.1:p.Arg105Gly
XM_017007814.1:c.313A>G XP_016863303.1:p.Arg105Gly
XM_017007815.1:c.313A>G XP_016863304.1:p.Arg105Gly
XR_002959715.1:n.376A>G
NM_001347.4:c.313A>G MANE Select NP_001338.2:p.Arg105Gly