Canonical Allele Identifier: CA13830133

Gene: DGKH

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42146563G>A , CM000675.2:g.42146563G>A	GRCh38
NC_000013.10:g.42720699G>A , CM000675.1:g.42720699G>A	GRCh37
NC_000013.9:g.41618699G>A	NCBI36
NG_029191.2:g.111528G>A
NG_029191.3:g.111528G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_178009.5:c.385-8728G>A MANE Select	NP_821077.1:n.385-8728G>A
ENST00000337343.9:c.385-8728G>A MANE Select	ENSP00000337572.4:n.385-8728G>A
NM_001204504.2:c.385-8728G>A	NP_001191433.1:n.385-8728G>A
NM_001204504.3:c.385-8728G>A	NP_001191433.1:n.385-8728G>A
NM_001204505.2:c.-25+8414G>A	NP_001191434.1:n.-25+8414G>A
NM_001204505.3:c.-25+8414G>A	NP_001191434.1:n.-25+8414G>A
NM_001204506.2:c.-25+8414G>A	NP_001191435.1:n.-25+8414G>A
NM_001204506.3:c.-25+8414G>A	NP_001191435.1:n.-25+8414G>A
NM_001297429.1:c.-119+8414G>A	NP_001284358.1:n.-119+8414G>A
NM_001297429.2:c.-119+8414G>A	NP_001284358.1:n.-119+8414G>A
NM_152910.5:c.385-8728G>A	NP_690874.2:n.385-8728G>A
NM_152910.6:c.385-8728G>A	NP_690874.2:n.385-8728G>A
NM_178009.4:c.385-8728G>A	NP_821077.1:n.385-8728G>A
NR_123714.1:n.108+8414G>A
NR_123714.2:n.92+8414G>A
NR_123715.1:n.555+5720G>A
NR_123715.2:n.539+5720G>A
ENST00000261491.9:c.385-8728G>A	ENSP00000261491.4:n.385-8728G>A
ENST00000337343.8:c.385-8728G>A	ENSP00000337572.4:n.385-8728G>A
ENST00000379274.6:c.385-8728G>A	ENSP00000368576.3:n.385-8728G>A
ENST00000498255.6:n.449+5720G>A
ENST00000536612.3:c.-25+8414G>A	ENSP00000445114.2:n.-25+8414G>A
ENST00000626247.2:c.-25+8414G>A	ENSP00000486329.1:n.-25+8414G>A
ENST00000627777.2:c.-25+8414G>A	ENSP00000486838.1:n.-25+8414G>A
ENST00000628433.2:c.-25+8414G>A	ENSP00000485809.1:n.-25+8414G>A