Canonical Allele Identifier: CA2018020078
Community Standard Title: NM_178009.5(DGKH):c.192+30336C=
Gene: DGKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42079301C= , CM000675.2:g.42079301C= GRCh38
NC_000013.10:g.42653437C= , CM000675.1:g.42653437C= GRCh37
NC_000013.9:g.41551437C= NCBI36
NG_029191.2:g.44266C=
NG_029191.3:g.44266C=

Transcript Alleles

HGVS Amino-acid Change
NM_178009.5:c.192+30336C= MANE Select NP_821077.1:n.192+30336C=
ENST00000337343.9:c.192+30336C= MANE Select ENSP00000337572.4:n.192+30336C=
NM_001204504.2:c.192+30336C= NP_001191433.1:n.192+30336C=
NM_001204504.3:c.192+30336C= NP_001191433.1:n.192+30336C=
NM_152910.5:c.192+30336C= NP_690874.2:n.192+30336C=
NM_152910.6:c.192+30336C= NP_690874.2:n.192+30336C=
NM_178009.4:c.192+30336C= NP_821077.1:n.192+30336C=
ENST00000261491.9:c.192+30336C= ENSP00000261491.4:n.192+30336C=
ENST00000337343.8:c.192+30336C= ENSP00000337572.4:n.192+30336C=
ENST00000379274.6:c.192+30336C= ENSP00000368576.3:n.192+30336C=