Canonical Allele Identifier: CA355941705
Gene: DGKQ HGNC NCBI

Linked Data

gnomAD v4: 4-971049-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.971049T>A , CM000666.2:g.971049T>A GRCh38
NC_000004.11:g.964837T>A , CM000666.1:g.964837T>A GRCh37
NC_000004.10:g.954837T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273814.8:c.295A>T MANE Select ENSP00000273814.3:p.Lys99Ter
ENST00000273814.7:c.295A>T ENSP00000273814.3:p.Lys99Ter
ENST00000509465.5:c.135A>T
ENST00000510286.1:c.70A>T ENSP00000427268.1:p.Lys24Ter
NM_001347.3:c.295A>T NP_001338.2:p.Lys99Ter
XM_011513411.1:c.295A>T XP_011511713.1:p.Lys99Ter
XM_011513412.1:c.295A>T XP_011511714.1:p.Lys99Ter
XM_011513413.1:c.295A>T XP_011511715.1:p.Lys99Ter
XM_011513414.1:c.295A>T XP_011511716.1:p.Lys99Ter
XM_011513415.1:c.295A>T XP_011511717.1:p.Lys99Ter
XM_011513414.2:c.295A>T XP_011511716.1:p.Lys99Ter
XM_017007814.1:c.295A>T XP_016863303.1:p.Lys99Ter
XM_017007815.1:c.295A>T XP_016863304.1:p.Lys99Ter
XR_002959715.1:n.358A>T
NM_001347.4:c.295A>T MANE Select NP_001338.2:p.Lys99Ter