LDH info

Canonical Allele Identifier: CA121823
Gene: KHK HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12031
ClinVar RCV Id: RCV000012811
dbSNP Id: rs104893643

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27092357G>A , CM000664.2:g.27092357G>A GRCh38
NC_000002.11:g.27315225G>A , CM000664.1:g.27315225G>A GRCh37
NC_000002.10:g.27168729G>A NCBI36
NG_012199.1:g.10615G>A

Transcript Alleles

HGVS Amino-acid change
NM_000221.2:c.118G>A VV NP_000212.1:p.Gly40Arg
NM_006488.2:c.118G>A VV NP_006479.1:p.Gly40Arg
XM_005264294.2:c.118G>A XP_005264351.1:p.Gly40Arg
XM_005264296.2:c.118G>A XP_005264353.1:p.Gly40Arg
XM_005264298.2:c.93-4372G>A XP_005264355.1:p.=
XM_006712008.2:c.118G>A XP_006712071.1:p.Gly40Arg
XM_006712009.2:c.118G>A XP_006712072.1:p.Gly40Arg
XM_006712010.2:c.118G>A XP_006712073.1:p.Gly40Arg
XM_006712011.2:c.118G>A XP_006712074.1:p.Gly40Arg
XM_006712012.2:c.118G>A XP_006712075.1:p.Gly40Arg
XM_006712013.2:c.118G>A XP_006712076.1:p.Gly40Arg
XM_006712014.2:c.93-4372G>A XP_006712077.1:p.=
XM_005264294.4:c.118G>A XP_005264351.1:p.Gly40Arg
XM_005264296.4:c.118G>A XP_005264353.1:p.Gly40Arg
XM_005264298.4:c.93-4372G>A XP_005264355.1:p.=
XM_006712008.4:c.118G>A XP_006712071.1:p.Gly40Arg
XM_006712009.4:c.118G>A XP_006712072.1:p.Gly40Arg
XM_006712010.4:c.118G>A XP_006712073.1:p.Gly40Arg
XM_006712011.4:c.118G>A XP_006712074.1:p.Gly40Arg
XM_006712012.4:c.118G>A XP_006712075.1:p.Gly40Arg
XM_006712013.4:c.118G>A XP_006712076.1:p.Gly40Arg
XM_006712014.4:c.93-4372G>A XP_006712077.1:p.=
XM_017004060.2:c.118G>A XP_016859549.1:p.Gly40Arg
XM_017004061.2:c.118G>A XP_016859550.1:p.Gly40Arg
NM_006488.3:c.118G>A VV MANE Preferred NP_006479.1:p.Gly40Arg
ENST00000260598.9:c.118G>A ENSP00000260598.5:p.Gly40Arg
ENST00000260599.10:c.118G>A ENSP00000260599.6:p.Gly40Arg
ENST00000429697.1:c.118G>A ENSP00000404741.1:p.Gly40Arg
ENST00000490823.5:n.466G>A