Canonical Allele Identifier: CA2087195618
Gene: DGKH HGNC NCBI

Linked Data

dbSNP Id: rs1956163162

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42160826C>T , CM000675.2:g.42160826C>T GRCh38
NC_000013.10:g.42734962C>T , CM000675.1:g.42734962C>T GRCh37
NC_000013.9:g.41632962C>T NCBI36
NG_029191.2:g.125791C>T
NG_029191.3:g.125791C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337343.9:c.855+690C>T MANE Select ENSP00000337572.4:n.855+690C>T
ENST00000261491.9:c.855+690C>T ENSP00000261491.4:n.855+690C>T
ENST00000337343.8:c.855+690C>T ENSP00000337572.4:n.855+690C>T
ENST00000379274.6:c.855+690C>T ENSP00000368576.3:n.855+690C>T
ENST00000498255.6:n.1086+690C>T
ENST00000536612.3:c.447+690C>T ENSP00000445114.2:n.447+690C>T
ENST00000626247.2:c.215-4505C>T ENSP00000486329.1:n.215-4505C>T
ENST00000627777.2:c.447+690C>T ENSP00000486838.1:n.447+690C>T
ENST00000628433.2:c.447+690C>T ENSP00000485809.1:n.447+690C>T
NM_001204504.2:c.855+690C>T NP_001191433.1:n.855+690C>T
NM_001204505.2:c.447+690C>T NP_001191434.1:n.447+690C>T
NM_001204506.2:c.447+690C>T NP_001191435.1:n.447+690C>T
NM_001297429.1:c.121-4505C>T NP_001284358.1:n.121-4505C>T
NM_152910.5:c.855+690C>T NP_690874.2:n.855+690C>T
NM_178009.4:c.855+690C>T NP_821077.1:n.855+690C>T
NR_123714.1:n.579+690C>T
NR_123715.1:n.1192+690C>T
NM_001204505.3:c.447+690C>T NP_001191434.1:n.447+690C>T
NM_001204506.3:c.447+690C>T NP_001191435.1:n.447+690C>T
NM_001297429.2:c.121-4505C>T NP_001284358.1:n.121-4505C>T
NM_152910.6:c.855+690C>T NP_690874.2:n.855+690C>T
NM_178009.5:c.855+690C>T MANE Select NP_821077.1:n.855+690C>T
NR_123714.2:n.563+690C>T
NR_123715.2:n.1176+690C>T
NM_001204504.3:c.855+690C>T NP_001191433.1:n.855+690C>T