Canonical Allele Identifier: CA91138456

Gene: DGKQ

Linked Data

• dbSNP Id: rs758123010
• gnomAD v2: 4-964806-G-A
• gnomAD v4: 4-971018-G-A
• COSMIC: COSM1619253
• MyVariant Identifiers: chr4:g.964806G>A (hg19) ; chr4:g.971018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.971018G>A , CM000666.2:g.971018G>A	GRCh38
NC_000004.11:g.964806G>A , CM000666.1:g.964806G>A	GRCh37
NC_000004.10:g.954806G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273814.8:c.326C>T MANE Select	ENSP00000273814.3:p.Thr109Met
ENST00000273814.7:c.326C>T	ENSP00000273814.3:p.Thr109Met
ENST00000509465.5:c.166C>T
ENST00000510286.1:c.101C>T	ENSP00000427268.1:p.Thr34Met
NM_001347.3:c.326C>T	NP_001338.2:p.Thr109Met
XM_011513411.1:c.326C>T	XP_011511713.1:p.Thr109Met
XM_011513412.1:c.326C>T	XP_011511714.1:p.Thr109Met
XM_011513413.1:c.326C>T	XP_011511715.1:p.Thr109Met
XM_011513414.1:c.326C>T	XP_011511716.1:p.Thr109Met
XM_011513415.1:c.326C>T	XP_011511717.1:p.Thr109Met
XM_011513414.2:c.326C>T	XP_011511716.1:p.Thr109Met
XM_017007814.1:c.326C>T	XP_016863303.1:p.Thr109Met
XM_017007815.1:c.326C>T	XP_016863304.1:p.Thr109Met
XR_002959715.1:n.389C>T
NM_001347.4:c.326C>T MANE Select	NP_001338.2:p.Thr109Met