Canonical Allele Identifier: CA2801002

Gene: DGKQ

Linked Data

• dbSNP Id: rs137872045
• ExAC: 4:964783 G / A
• gnomAD v2: 4-964783-G-A
• gnomAD v3: 4-970995-G-A
• gnomAD v4: 4-970995-G-A
• MyVariant Identifiers: chr4:g.964783G>A (hg19) ; chr4:g.970995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.970995G>A , CM000666.2:g.970995G>A	GRCh38
NC_000004.11:g.964783G>A , CM000666.1:g.964783G>A	GRCh37
NC_000004.10:g.954783G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273814.8:c.349C>T MANE Select	ENSP00000273814.3:p.Arg117Trp
ENST00000273814.7:c.349C>T	ENSP00000273814.3:p.Arg117Trp
ENST00000509465.5:c.189C>T
ENST00000510286.1:c.124C>T	ENSP00000427268.1:p.Arg42Trp
NM_001347.3:c.349C>T	NP_001338.2:p.Arg117Trp
XM_011513411.1:c.349C>T	XP_011511713.1:p.Arg117Trp
XM_011513412.1:c.349C>T	XP_011511714.1:p.Arg117Trp
XM_011513413.1:c.349C>T	XP_011511715.1:p.Arg117Trp
XM_011513414.1:c.349C>T	XP_011511716.1:p.Arg117Trp
XM_011513415.1:c.349C>T	XP_011511717.1:p.Arg117Trp
XM_011513414.2:c.349C>T	XP_011511716.1:p.Arg117Trp
XM_017007814.1:c.349C>T	XP_016863303.1:p.Arg117Trp
XM_017007815.1:c.349C>T	XP_016863304.1:p.Arg117Trp
XR_002959715.1:n.412C>T
NM_001347.4:c.349C>T MANE Select	NP_001338.2:p.Arg117Trp