Canonical Allele Identifier: CA2087220781
Community Standard Title: NM_178009.5(DGKH):c.3327G= (p.Glu1109=)
Gene: DGKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42219343G= , CM000675.2:g.42219343G= GRCh38
NC_000013.10:g.42793479G= , CM000675.1:g.42793479G= GRCh37
NC_000013.9:g.41691479G= NCBI36
NG_029191.2:g.184308G=
NG_029191.3:g.184308G=

Transcript Alleles

HGVS Amino-acid Change
NM_178009.5:c.3327G= MANE Select NP_821077.1:p.Glu1109=
ENST00000337343.9:c.3327G= MANE Select ENSP00000337572.4:p.Glu1109=
NM_001204504.2:c.3327G= NP_001191433.1:p.Glu1109=
NM_001204504.3:c.3327G= NP_001191433.1:p.Glu1109=
NM_001204505.2:c.2919G= NP_001191434.1:p.Glu973=
NM_001204505.3:c.2919G= NP_001191434.1:p.Glu973=
NM_001204506.2:c.2919G= NP_001191435.1:p.Glu973=
NM_001204506.3:c.2919G= NP_001191435.1:p.Glu973=
NM_001297429.1:c.2592G= NP_001284358.1:p.Glu864=
NM_001297429.2:c.2592G= NP_001284358.1:p.Glu864=
NM_152910.5:c.3327G= NP_690874.2:p.Glu1109=
NM_152910.6:c.3327G= NP_690874.2:p.Glu1109=
NM_178009.4:c.3327G= NP_821077.1:p.Glu1109=
NR_123714.1:n.3051G=
NR_123714.2:n.3035G=
NR_123715.1:n.3859G=
NR_123715.2:n.3843G=
ENST00000261491.9:c.3327G= ENSP00000261491.4:p.Glu1109=
ENST00000337343.8:c.3327G= ENSP00000337572.4:p.Glu1109=
ENST00000379274.6:c.3327G= ENSP00000368576.3:p.Glu1109=
ENST00000498255.6:n.3753G=
ENST00000536612.3:c.2919G= ENSP00000445114.2:p.Glu973=
ENST00000626247.2:c.*2416G= ENSP00000486329.1:n.*2416G=
ENST00000627777.2:c.2919G= ENSP00000486838.1:p.Glu973=
ENST00000628433.2:c.2919G= ENSP00000485809.1:p.Glu973=