Canonical Allele Identifier: CA2622825848

Gene: DGKH

Linked Data

• gnomAD v4: 13-42229042-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42229042C>T , CM000675.2:g.42229042C>T	GRCh38
NC_000013.10:g.42803178C>T , CM000675.1:g.42803178C>T	GRCh37
NC_000013.9:g.41701178C>T	NCBI36
NG_029191.2:g.194007C>T
NG_029191.3:g.194007C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337343.9:c.3574-57C>T MANE Select	ENSP00000337572.4:n.3574-57C>T
ENST00000261491.9:c.3443-57C>T	ENSP00000261491.4:n.3443-57C>T
ENST00000337343.8:c.3574-57C>T	ENSP00000337572.4:n.3574-57C>T
ENST00000379274.6:c.3443-57C>T	ENSP00000368576.3:n.3443-57C>T
ENST00000498255.6:n.3869-57C>T
ENST00000536612.3:c.3214-57C>T	ENSP00000445114.2:n.3214-57C>T
ENST00000626247.2:c.*2532-57C>T	ENSP00000486329.1:n.*2532-57C>T
ENST00000627777.2:c.*181-57C>T	ENSP00000486838.1:n.*181-57C>T
ENST00000628433.2:c.3166-57C>T	ENSP00000485809.1:n.3166-57C>T
NM_001204504.2:c.3443-57C>T	NP_001191433.1:n.3443-57C>T
NM_001204505.2:c.3214-57C>T	NP_001191434.1:n.3214-57C>T
NM_001204506.2:c.3166-57C>T	NP_001191435.1:n.3166-57C>T
NM_001297429.1:c.2708-57C>T	NP_001284358.1:n.2708-57C>T
NM_152910.5:c.3443-57C>T	NP_690874.2:n.3443-57C>T
NM_178009.4:c.3574-57C>T	NP_821077.1:n.3574-57C>T
NR_123714.1:n.3400-57C>T
NR_123715.1:n.3975-57C>T
NM_001204505.3:c.3214-57C>T	NP_001191434.1:n.3214-57C>T
NM_001204506.3:c.3166-57C>T	NP_001191435.1:n.3166-57C>T
NM_001297429.2:c.2708-57C>T	NP_001284358.1:n.2708-57C>T
NM_152910.6:c.3443-57C>T	NP_690874.2:n.3443-57C>T
NM_178009.5:c.3574-57C>T MANE Select	NP_821077.1:n.3574-57C>T
NR_123714.2:n.3384-57C>T
NR_123715.2:n.3959-57C>T
NM_001204504.3:c.3443-57C>T	NP_001191433.1:n.3443-57C>T