Canonical Allele Identifier: CA2087224990
Community Standard Title: NM_178009.5(DGKH):c.3602T= (p.Val1201=)
Gene: DGKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42229127T= , CM000675.2:g.42229127T= GRCh38
NC_000013.10:g.42803263T= , CM000675.1:g.42803263T= GRCh37
NC_000013.9:g.41701263T= NCBI36
NG_029191.2:g.194092T=
NG_029191.3:g.194092T=

Transcript Alleles

HGVS Amino-acid Change
NM_178009.5:c.3602T= MANE Select NP_821077.1:p.Val1201=
ENST00000337343.9:c.3602T= MANE Select ENSP00000337572.4:p.Val1201=
NM_001204504.2:c.3471T= NP_001191433.1:p.Cys1157=
NM_001204504.3:c.3471T= NP_001191433.1:p.Cys1157=
NM_001204505.2:c.3242T= NP_001191434.1:p.Val1081=
NM_001204505.3:c.3242T= NP_001191434.1:p.Val1081=
NM_001204506.2:c.3194T= NP_001191435.1:p.Val1065=
NM_001204506.3:c.3194T= NP_001191435.1:p.Val1065=
NM_001297429.1:c.2736T= NP_001284358.1:p.Cys912=
NM_001297429.2:c.2736T= NP_001284358.1:p.Cys912=
NM_152910.5:c.3471T= NP_690874.2:p.Cys1157=
NM_152910.6:c.3471T= NP_690874.2:p.Cys1157=
NM_178009.4:c.3602T= NP_821077.1:p.Val1201=
NR_123714.1:n.3428T=
NR_123714.2:n.3412T=
NR_123715.1:n.4003T=
NR_123715.2:n.3987T=
ENST00000261491.9:c.3471T= ENSP00000261491.4:p.Cys1157=
ENST00000337343.8:c.3602T= ENSP00000337572.4:p.Val1201=
ENST00000379274.6:c.3471T= ENSP00000368576.3:p.Cys1157=
ENST00000498255.6:n.3897T=
ENST00000536612.3:c.3242T= ENSP00000445114.2:p.Val1081=
ENST00000626247.2:c.*2560T= ENSP00000486329.1:n.*2560T=
ENST00000627777.2:c.*209T= ENSP00000486838.1:n.*209T=
ENST00000628433.2:c.3194T= ENSP00000485809.1:p.Val1065=