Canonical Allele Identifier: CA248534499

Gene: DGKH

Linked Data

• dbSNP Id: rs748942433
• gnomAD v2: 13-42734897-G-A
• gnomAD v3: 13-42160761-G-A
• gnomAD v4: 13-42160761-G-A
• MyVariant Identifiers: chr13:g.42734897G>A (hg19) ; chr13:g.42160761G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42160761G>A , CM000675.2:g.42160761G>A	GRCh38
NC_000013.10:g.42734897G>A , CM000675.1:g.42734897G>A	GRCh37
NC_000013.9:g.41632897G>A	NCBI36
NG_029191.2:g.125726G>A
NG_029191.3:g.125726G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337343.9:c.855+625G>A MANE Select	ENSP00000337572.4:n.855+625G>A
ENST00000261491.9:c.855+625G>A	ENSP00000261491.4:n.855+625G>A
ENST00000337343.8:c.855+625G>A	ENSP00000337572.4:n.855+625G>A
ENST00000379274.6:c.855+625G>A	ENSP00000368576.3:n.855+625G>A
ENST00000498255.6:n.1086+625G>A
ENST00000536612.3:c.447+625G>A	ENSP00000445114.2:n.447+625G>A
ENST00000626247.2:c.215-4570G>A	ENSP00000486329.1:n.215-4570G>A
ENST00000627777.2:c.447+625G>A	ENSP00000486838.1:n.447+625G>A
ENST00000628433.2:c.447+625G>A	ENSP00000485809.1:n.447+625G>A
NM_001204504.2:c.855+625G>A	NP_001191433.1:n.855+625G>A
NM_001204505.2:c.447+625G>A	NP_001191434.1:n.447+625G>A
NM_001204506.2:c.447+625G>A	NP_001191435.1:n.447+625G>A
NM_001297429.1:c.121-4570G>A	NP_001284358.1:n.121-4570G>A
NM_152910.5:c.855+625G>A	NP_690874.2:n.855+625G>A
NM_178009.4:c.855+625G>A	NP_821077.1:n.855+625G>A
NR_123714.1:n.579+625G>A
NR_123715.1:n.1192+625G>A
NM_001204505.3:c.447+625G>A	NP_001191434.1:n.447+625G>A
NM_001204506.3:c.447+625G>A	NP_001191435.1:n.447+625G>A
NM_001297429.2:c.121-4570G>A	NP_001284358.1:n.121-4570G>A
NM_152910.6:c.855+625G>A	NP_690874.2:n.855+625G>A
NM_178009.5:c.855+625G>A MANE Select	NP_821077.1:n.855+625G>A
NR_123714.2:n.563+625G>A
NR_123715.2:n.1176+625G>A
NM_001204504.3:c.855+625G>A	NP_001191433.1:n.855+625G>A