LDH info

Canonical Allele Identifier: CA320653
Gene: PDHA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 214938
dbSNP Id: rs863224148

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19350033C>T , CM000685.2:g.19350033C>T GRCh38
NC_000023.10:g.19368151C>T , CM000685.1:g.19368151C>T GRCh37
NC_000023.9:g.19278072C>T NCBI36
NG_016781.1:g.11141C>T

Transcript Alleles

HGVS Amino-acid change
NM_000284.3:c.214C>T VV NP_000275.1:p.Arg72Cys
NM_001173454.1:c.328C>T VV NP_001166925.1:p.Arg110Cys
NM_001173455.1:c.214C>T VV NP_001166926.1:p.Arg72Cys
NM_001173456.1:c.214C>T VV NP_001166927.1:p.Arg72Cys
XM_011545531.1:c.328C>T XP_011543833.1:p.Arg110Cys
XM_011545532.1:c.328C>T XP_011543834.1:p.Arg110Cys
XM_017029574.2:c.328C>T XP_016885063.1:p.Arg110Cys
ENST00000355808.9:c.214C>T ENSP00000348062.5:p.Arg72Cys
ENST00000379805.3:c.214C>T ENSP00000369133.3:p.Arg72Cys
ENST00000379806.9:c.328C>T ENSP00000369134.5:p.Arg110Cys
ENST00000417819.5:c.298C>T ENSP00000404616.1:p.Arg100Cys
ENST00000422285.6:c.214C>T ENSP00000394382.2:p.Arg72Cys
ENST00000423505.5:c.328C>T ENSP00000406473.1:p.Arg110Cys
ENST00000492364.1:n.316C>T
ENST00000540249.5:c.214C>T ENSP00000440761.1:p.Arg72Cys
ENST00000545074.5:c.214C>T ENSP00000438550.1:p.Arg72Cys