Canonical Allele Identifier: CA2801005
Gene: DGKQ HGNC NCBI

Linked Data

dbSNP Id: rs368443817
gnomAD v2: 4-964812-G-A
gnomAD v3: 4-971024-G-A
gnomAD v4: 4-971024-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.971024G>A , CM000666.2:g.971024G>A GRCh38
NC_000004.11:g.964812G>A , CM000666.1:g.964812G>A GRCh37
NC_000004.10:g.954812G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273814.8:c.320C>T MANE Select ENSP00000273814.3:p.Pro107Leu
ENST00000273814.7:c.320C>T ENSP00000273814.3:p.Pro107Leu
ENST00000509465.5:c.160C>T
ENST00000510286.1:c.95C>T ENSP00000427268.1:p.Pro32Leu
NM_001347.3:c.320C>T NP_001338.2:p.Pro107Leu
XM_011513411.1:c.320C>T XP_011511713.1:p.Pro107Leu
XM_011513412.1:c.320C>T XP_011511714.1:p.Pro107Leu
XM_011513413.1:c.320C>T XP_011511715.1:p.Pro107Leu
XM_011513414.1:c.320C>T XP_011511716.1:p.Pro107Leu
XM_011513415.1:c.320C>T XP_011511717.1:p.Pro107Leu
XM_011513414.2:c.320C>T XP_011511716.1:p.Pro107Leu
XM_017007814.1:c.320C>T XP_016863303.1:p.Pro107Leu
XM_017007815.1:c.320C>T XP_016863304.1:p.Pro107Leu
XR_002959715.1:n.383C>T
NM_001347.4:c.320C>T MANE Select NP_001338.2:p.Pro107Leu