Canonical Allele Identifier: CA355941618
Gene: DGKQ HGNC NCBI

Linked Data

gnomAD v4: 4-971009-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.971009G>T , CM000666.2:g.971009G>T GRCh38
NC_000004.11:g.964797G>T , CM000666.1:g.964797G>T GRCh37
NC_000004.10:g.954797G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273814.8:c.335C>A MANE Select ENSP00000273814.3:p.Ala112Glu
ENST00000273814.7:c.335C>A ENSP00000273814.3:p.Ala112Glu
ENST00000509465.5:c.175C>A
ENST00000510286.1:c.110C>A ENSP00000427268.1:p.Ala37Glu
NM_001347.3:c.335C>A NP_001338.2:p.Ala112Glu
XM_011513411.1:c.335C>A XP_011511713.1:p.Ala112Glu
XM_011513412.1:c.335C>A XP_011511714.1:p.Ala112Glu
XM_011513413.1:c.335C>A XP_011511715.1:p.Ala112Glu
XM_011513414.1:c.335C>A XP_011511716.1:p.Ala112Glu
XM_011513415.1:c.335C>A XP_011511717.1:p.Ala112Glu
XM_011513414.2:c.335C>A XP_011511716.1:p.Ala112Glu
XM_017007814.1:c.335C>A XP_016863303.1:p.Ala112Glu
XM_017007815.1:c.335C>A XP_016863304.1:p.Ala112Glu
XR_002959715.1:n.398C>A
NM_001347.4:c.335C>A MANE Select NP_001338.2:p.Ala112Glu