Canonical Allele Identifier: CA248519312

Gene: DGKH

Linked Data

• dbSNP Id: rs947268347
• gnomAD v3: 13-42079210-C-A
• gnomAD v4: 13-42079210-C-A
• MyVariant Identifiers: chr13:g.42653346C>A (hg19) ; chr13:g.42079210C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42079210C>A , CM000675.2:g.42079210C>A	GRCh38
NC_000013.10:g.42653346C>A , CM000675.1:g.42653346C>A	GRCh37
NC_000013.9:g.41551346C>A	NCBI36
NG_029191.2:g.44175C>A
NG_029191.3:g.44175C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337343.9:c.192+30245C>A MANE Select	ENSP00000337572.4:n.192+30245C>A
ENST00000261491.9:c.192+30245C>A	ENSP00000261491.4:n.192+30245C>A
ENST00000337343.8:c.192+30245C>A	ENSP00000337572.4:n.192+30245C>A
ENST00000379274.6:c.192+30245C>A	ENSP00000368576.3:n.192+30245C>A
NM_001204504.2:c.192+30245C>A	NP_001191433.1:n.192+30245C>A
NM_152910.5:c.192+30245C>A	NP_690874.2:n.192+30245C>A
NM_178009.4:c.192+30245C>A	NP_821077.1:n.192+30245C>A
NM_152910.6:c.192+30245C>A	NP_690874.2:n.192+30245C>A
NM_178009.5:c.192+30245C>A MANE Select	NP_821077.1:n.192+30245C>A
NM_001204504.3:c.192+30245C>A	NP_001191433.1:n.192+30245C>A