Canonical Allele Identifier: CA2592147193

Gene: DGKH

Linked Data

• dbSNP Id: rs555309814
• gnomAD v3: 13-42160692-G-C
• gnomAD v4: 13-42160692-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42160692G>C , CM000675.2:g.42160692G>C	GRCh38
NC_000013.10:g.42734828G>C , CM000675.1:g.42734828G>C	GRCh37
NC_000013.9:g.41632828G>C	NCBI36
NG_029191.2:g.125657G>C
NG_029191.3:g.125657G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337343.9:c.855+556G>C MANE Select	ENSP00000337572.4:n.855+556G>C
ENST00000261491.9:c.855+556G>C	ENSP00000261491.4:n.855+556G>C
ENST00000337343.8:c.855+556G>C	ENSP00000337572.4:n.855+556G>C
ENST00000379274.6:c.855+556G>C	ENSP00000368576.3:n.855+556G>C
ENST00000498255.6:n.1086+556G>C
ENST00000536612.3:c.447+556G>C	ENSP00000445114.2:n.447+556G>C
ENST00000626247.2:c.215-4639G>C	ENSP00000486329.1:n.215-4639G>C
ENST00000627777.2:c.447+556G>C	ENSP00000486838.1:n.447+556G>C
ENST00000628433.2:c.447+556G>C	ENSP00000485809.1:n.447+556G>C
NM_001204504.2:c.855+556G>C	NP_001191433.1:n.855+556G>C
NM_001204505.2:c.447+556G>C	NP_001191434.1:n.447+556G>C
NM_001204506.2:c.447+556G>C	NP_001191435.1:n.447+556G>C
NM_001297429.1:c.121-4639G>C	NP_001284358.1:n.121-4639G>C
NM_152910.5:c.855+556G>C	NP_690874.2:n.855+556G>C
NM_178009.4:c.855+556G>C	NP_821077.1:n.855+556G>C
NR_123714.1:n.579+556G>C
NR_123715.1:n.1192+556G>C
NM_001204505.3:c.447+556G>C	NP_001191434.1:n.447+556G>C
NM_001204506.3:c.447+556G>C	NP_001191435.1:n.447+556G>C
NM_001297429.2:c.121-4639G>C	NP_001284358.1:n.121-4639G>C
NM_152910.6:c.855+556G>C	NP_690874.2:n.855+556G>C
NM_178009.5:c.855+556G>C MANE Select	NP_821077.1:n.855+556G>C
NR_123714.2:n.563+556G>C
NR_123715.2:n.1176+556G>C
NM_001204504.3:c.855+556G>C	NP_001191433.1:n.855+556G>C