Canonical Allele Identifier: CA355941610
Gene: DGKQ HGNC NCBI

Linked Data

gnomAD v4: 4-971006-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.971006G>A , CM000666.2:g.971006G>A GRCh38
NC_000004.11:g.964794G>A , CM000666.1:g.964794G>A GRCh37
NC_000004.10:g.954794G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273814.8:c.338C>T MANE Select ENSP00000273814.3:p.Pro113Leu
ENST00000273814.7:c.338C>T ENSP00000273814.3:p.Pro113Leu
ENST00000509465.5:c.178C>T
ENST00000510286.1:c.113C>T ENSP00000427268.1:p.Pro38Leu
NM_001347.3:c.338C>T NP_001338.2:p.Pro113Leu
XM_011513411.1:c.338C>T XP_011511713.1:p.Pro113Leu
XM_011513412.1:c.338C>T XP_011511714.1:p.Pro113Leu
XM_011513413.1:c.338C>T XP_011511715.1:p.Pro113Leu
XM_011513414.1:c.338C>T XP_011511716.1:p.Pro113Leu
XM_011513415.1:c.338C>T XP_011511717.1:p.Pro113Leu
XM_011513414.2:c.338C>T XP_011511716.1:p.Pro113Leu
XM_017007814.1:c.338C>T XP_016863303.1:p.Pro113Leu
XM_017007815.1:c.338C>T XP_016863304.1:p.Pro113Leu
XR_002959715.1:n.401C>T
NM_001347.4:c.338C>T MANE Select NP_001338.2:p.Pro113Leu