LDH info

Canonical Allele Identifier: CA117677

Identifiers and link-outs to other resources

ClinVar Variation Id: 5681
dbSNP Id: rs74315511

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523994C>T , CM000684.2:g.50523994C>T GRCh38
NC_000022.10:g.50962423C>T , CM000684.1:g.50962423C>T GRCh37
NC_000022.9:g.49309289C>T NCBI36
NG_011860.1:g.11092G>A , LRG_727:g.11092G>A
NG_016235.1:g.7446G>A
NG_021419.1:g.20779C>T

Transcript Alleles

HGVS Amino-acid change
NM_001169109.1:c.418G>A (SCO2) VV NP_001162580.1:p.Glu140Lys
NM_001169110.1:c.418G>A (SCO2) VV NP_001162581.1:p.Glu140Lys
NM_001169111.1:c.418G>A (SCO2) VV NP_001162582.1:p.Glu140Lys
NM_001185011.1:c.*619C>T (NCAPH2) VV NP_001171940.1:p.=
NM_005138.2:c.418G>A (SCO2) VV NP_005129.2:p.Glu140Lys
NM_152299.3:c.*619C>T (NCAPH2) VV NP_689512.2:p.=
XR_001755232.1:n.2647C>T (NCAPH2)
NM_152299.4:c.*619C>T (NCAPH2) VV NP_689512.2:p.=
ENST00000252785.3:c.418G>A ENSP00000252785.3:p.Glu140Lys
ENST00000395693.7:c.418G>A ENSP00000379046.3:p.Glu140Lys
ENST00000535425.5:c.418G>A ENSP00000444242.1:p.Glu140Lys
ENST00000543927.5:c.418G>A ENSP00000444433.1:p.Glu140Lys