Canonical Allele Identifier: CA355941632
Gene: DGKQ HGNC NCBI

Linked Data

dbSNP Id: rs1366592477
gnomAD v2: 4-964803-C-T
gnomAD v4: 4-971015-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.971015C>T , CM000666.2:g.971015C>T GRCh38
NC_000004.11:g.964803C>T , CM000666.1:g.964803C>T GRCh37
NC_000004.10:g.954803C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273814.8:c.329G>A MANE Select ENSP00000273814.3:p.Ser110Asn
ENST00000273814.7:c.329G>A ENSP00000273814.3:p.Ser110Asn
ENST00000509465.5:c.169G>A
ENST00000510286.1:c.104G>A ENSP00000427268.1:p.Ser35Asn
NM_001347.3:c.329G>A NP_001338.2:p.Ser110Asn
XM_011513411.1:c.329G>A XP_011511713.1:p.Ser110Asn
XM_011513412.1:c.329G>A XP_011511714.1:p.Ser110Asn
XM_011513413.1:c.329G>A XP_011511715.1:p.Ser110Asn
XM_011513414.1:c.329G>A XP_011511716.1:p.Ser110Asn
XM_011513415.1:c.329G>A XP_011511717.1:p.Ser110Asn
XM_011513414.2:c.329G>A XP_011511716.1:p.Ser110Asn
XM_017007814.1:c.329G>A XP_016863303.1:p.Ser110Asn
XM_017007815.1:c.329G>A XP_016863304.1:p.Ser110Asn
XR_002959715.1:n.392G>A
NM_001347.4:c.329G>A MANE Select NP_001338.2:p.Ser110Asn