Canonical Allele Identifier: CA549144426
Gene: DGKQ HGNC NCBI

Linked Data

dbSNP Id: rs1329002872
gnomAD v2: 4-964296-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.970508G>C , CM000666.2:g.970508G>C GRCh38
NC_000004.11:g.964296G>C , CM000666.1:g.964296G>C GRCh37
NC_000004.10:g.954296G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000273814.8:c.351+485C>G MANE Select ENSP00000273814.3:n.351+485C>G
ENST00000273814.7:c.351+485C>G ENSP00000273814.3:n.351+485C>G
ENST00000509465.5:c.191+485C>G
ENST00000510286.1:c.126+485C>G ENSP00000427268.1:n.126+485C>G
NM_001347.3:c.351+485C>G NP_001338.2:n.351+485C>G
XM_011513411.1:c.351+485C>G XP_011511713.1:n.351+485C>G
XM_011513412.1:c.351+485C>G XP_011511714.1:n.351+485C>G
XM_011513413.1:c.351+485C>G XP_011511715.1:n.351+485C>G
XM_011513414.1:c.351+485C>G XP_011511716.1:n.351+485C>G
XM_011513415.1:c.351+485C>G XP_011511717.1:n.351+485C>G
XM_011513414.2:c.351+485C>G XP_011511716.1:n.351+485C>G
XM_017007814.1:c.351+485C>G XP_016863303.1:n.351+485C>G
XM_017007815.1:c.351+485C>G XP_016863304.1:n.351+485C>G
XR_002959715.1:n.414+485C>G
NM_001347.4:c.351+485C>G MANE Select NP_001338.2:n.351+485C>G