Canonical Allele Identifier: CA2087161041
Gene: DGKH HGNC NCBI

Linked Data

dbSNP Id: rs1954157767
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42079309G>A , CM000675.2:g.42079309G>A GRCh38
NC_000013.10:g.42653445G>A , CM000675.1:g.42653445G>A GRCh37
NC_000013.9:g.41551445G>A NCBI36
NG_029191.2:g.44274G>A
NG_029191.3:g.44274G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337343.9:c.192+30344G>A MANE Select ENSP00000337572.4:n.192+30344G>A
ENST00000261491.9:c.192+30344G>A ENSP00000261491.4:n.192+30344G>A
ENST00000337343.8:c.192+30344G>A ENSP00000337572.4:n.192+30344G>A
ENST00000379274.6:c.192+30344G>A ENSP00000368576.3:n.192+30344G>A
NM_001204504.2:c.192+30344G>A NP_001191433.1:n.192+30344G>A
NM_152910.5:c.192+30344G>A NP_690874.2:n.192+30344G>A
NM_178009.4:c.192+30344G>A NP_821077.1:n.192+30344G>A
NM_152910.6:c.192+30344G>A NP_690874.2:n.192+30344G>A
NM_178009.5:c.192+30344G>A MANE Select NP_821077.1:n.192+30344G>A
NM_001204504.3:c.192+30344G>A NP_001191433.1:n.192+30344G>A
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