Canonical Allele Identifier: CA1058442256
Gene: DGKQ HGNC NCBI

Linked Data

dbSNP Id: rs1712848170
gnomAD v3: 4-970582-C-T
gnomAD v4: 4-970582-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.970582C>T , CM000666.2:g.970582C>T GRCh38
NC_000004.11:g.964370C>T , CM000666.1:g.964370C>T GRCh37
NC_000004.10:g.954370C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000273814.8:c.351+411G>A MANE Select ENSP00000273814.3:n.351+411G>A
ENST00000273814.7:c.351+411G>A ENSP00000273814.3:n.351+411G>A
ENST00000509465.5:c.191+411G>A
ENST00000510286.1:c.126+411G>A ENSP00000427268.1:n.126+411G>A
NM_001347.3:c.351+411G>A NP_001338.2:n.351+411G>A
XM_011513411.1:c.351+411G>A XP_011511713.1:n.351+411G>A
XM_011513412.1:c.351+411G>A XP_011511714.1:n.351+411G>A
XM_011513413.1:c.351+411G>A XP_011511715.1:n.351+411G>A
XM_011513414.1:c.351+411G>A XP_011511716.1:n.351+411G>A
XM_011513415.1:c.351+411G>A XP_011511717.1:n.351+411G>A
XM_011513414.2:c.351+411G>A XP_011511716.1:n.351+411G>A
XM_017007814.1:c.351+411G>A XP_016863303.1:n.351+411G>A
XM_017007815.1:c.351+411G>A XP_016863304.1:n.351+411G>A
XR_002959715.1:n.414+411G>A
NM_001347.4:c.351+411G>A MANE Select NP_001338.2:n.351+411G>A