Canonical Allele Identifier: CA609503539
Gene: DGKH HGNC NCBI

Linked Data

dbSNP Id: rs1338424844
gnomAD v2: 13-42653488-C-A
gnomAD v3: 13-42079352-C-A
gnomAD v4: 13-42079352-C-A
MyVariant Identifiers: chr13:g.42653488C>A (hg19) chr13:g.42079352C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42079352C>A , CM000675.2:g.42079352C>A GRCh38
NC_000013.10:g.42653488C>A , CM000675.1:g.42653488C>A GRCh37
NC_000013.9:g.41551488C>A NCBI36
NG_029191.2:g.44317C>A
NG_029191.3:g.44317C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337343.9:c.192+30387C>A MANE Select ENSP00000337572.4:n.192+30387C>A
ENST00000261491.9:c.192+30387C>A ENSP00000261491.4:n.192+30387C>A
ENST00000337343.8:c.192+30387C>A ENSP00000337572.4:n.192+30387C>A
ENST00000379274.6:c.192+30387C>A ENSP00000368576.3:n.192+30387C>A
NM_001204504.2:c.192+30387C>A NP_001191433.1:n.192+30387C>A
NM_152910.5:c.192+30387C>A NP_690874.2:n.192+30387C>A
NM_178009.4:c.192+30387C>A NP_821077.1:n.192+30387C>A
NM_152910.6:c.192+30387C>A NP_690874.2:n.192+30387C>A
NM_178009.5:c.192+30387C>A MANE Select NP_821077.1:n.192+30387C>A
NM_001204504.3:c.192+30387C>A NP_001191433.1:n.192+30387C>A
Search 100 bp 5'
Search 100 bp 3'