Canonical Allele Identifier: CA2801008

Gene: DGKQ

Linked Data

• dbSNP Id: rs372737140
• ExAC: 4:964827 T / C
• gnomAD v2: 4-964827-T-C
• gnomAD v3: 4-971039-T-C
• gnomAD v4: 4-971039-T-C
• MyVariant Identifiers: chr4:g.964827T>C (hg19) ; chr4:g.971039T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.971039T>C , CM000666.2:g.971039T>C	GRCh38
NC_000004.11:g.964827T>C , CM000666.1:g.964827T>C	GRCh37
NC_000004.10:g.954827T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273814.8:c.305A>G MANE Select	ENSP00000273814.3:p.Lys102Arg
ENST00000273814.7:c.305A>G	ENSP00000273814.3:p.Lys102Arg
ENST00000509465.5:c.145A>G
ENST00000510286.1:c.80A>G	ENSP00000427268.1:p.Lys27Arg
NM_001347.3:c.305A>G	NP_001338.2:p.Lys102Arg
XM_011513411.1:c.305A>G	XP_011511713.1:p.Lys102Arg
XM_011513412.1:c.305A>G	XP_011511714.1:p.Lys102Arg
XM_011513413.1:c.305A>G	XP_011511715.1:p.Lys102Arg
XM_011513414.1:c.305A>G	XP_011511716.1:p.Lys102Arg
XM_011513415.1:c.305A>G	XP_011511717.1:p.Lys102Arg
XM_011513414.2:c.305A>G	XP_011511716.1:p.Lys102Arg
XM_017007814.1:c.305A>G	XP_016863303.1:p.Lys102Arg
XM_017007815.1:c.305A>G	XP_016863304.1:p.Lys102Arg
XR_002959715.1:n.368A>G
NM_001347.4:c.305A>G MANE Select	NP_001338.2:p.Lys102Arg