Canonical Allele Identifier: CA698155816

Gene: DGKH

Linked Data

• dbSNP Id: rs1239797729
• gnomAD v3: 13-42101345-T-C
• gnomAD v4: 13-42101345-T-C
• MyVariant Identifiers: chr13:g.42675481T>C (hg19) ; chr13:g.42101345T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42101345T>C , CM000675.2:g.42101345T>C	GRCh38
NC_000013.10:g.42675481T>C , CM000675.1:g.42675481T>C	GRCh37
NC_000013.9:g.41573481T>C	NCBI36
NG_029191.2:g.66310T>C
NG_029191.3:g.66310T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337343.9:c.193-26118T>C MANE Select	ENSP00000337572.4:n.193-26118T>C
ENST00000261491.9:c.193-26118T>C	ENSP00000261491.4:n.193-26118T>C
ENST00000337343.8:c.193-26118T>C	ENSP00000337572.4:n.193-26118T>C
ENST00000379274.6:c.193-26118T>C	ENSP00000368576.3:n.193-26118T>C
NM_001204504.2:c.193-26118T>C	NP_001191433.1:n.193-26118T>C
NM_152910.5:c.193-26118T>C	NP_690874.2:n.193-26118T>C
NM_178009.4:c.193-26118T>C	NP_821077.1:n.193-26118T>C
NM_152910.6:c.193-26118T>C	NP_690874.2:n.193-26118T>C
NM_178009.5:c.193-26118T>C MANE Select	NP_821077.1:n.193-26118T>C
NM_001204504.3:c.193-26118T>C	NP_001191433.1:n.193-26118T>C