Canonical Allele Identifier: CA2801006

Gene: DGKQ

Linked Data

• dbSNP Id: rs533889946
• ExAC: 4:964822 C / G
• gnomAD v2: 4-964822-C-G
• gnomAD v3: 4-971034-C-G
• gnomAD v4: 4-971034-C-G
• MyVariant Identifiers: chr4:g.964822C>G (hg19) ; chr4:g.971034C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.971034C>G , CM000666.2:g.971034C>G	GRCh38
NC_000004.11:g.964822C>G , CM000666.1:g.964822C>G	GRCh37
NC_000004.10:g.954822C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273814.8:c.310G>C MANE Select	ENSP00000273814.3:p.Val104Leu
ENST00000273814.7:c.310G>C	ENSP00000273814.3:p.Val104Leu
ENST00000509465.5:c.150G>C
ENST00000510286.1:c.85G>C	ENSP00000427268.1:p.Val29Leu
NM_001347.3:c.310G>C	NP_001338.2:p.Val104Leu
XM_011513411.1:c.310G>C	XP_011511713.1:p.Val104Leu
XM_011513412.1:c.310G>C	XP_011511714.1:p.Val104Leu
XM_011513413.1:c.310G>C	XP_011511715.1:p.Val104Leu
XM_011513414.1:c.310G>C	XP_011511716.1:p.Val104Leu
XM_011513415.1:c.310G>C	XP_011511717.1:p.Val104Leu
XM_011513414.2:c.310G>C	XP_011511716.1:p.Val104Leu
XM_017007814.1:c.310G>C	XP_016863303.1:p.Val104Leu
XM_017007815.1:c.310G>C	XP_016863304.1:p.Val104Leu
XR_002959715.1:n.373G>C
NM_001347.4:c.310G>C MANE Select	NP_001338.2:p.Val104Leu