LDH info

Canonical Allele Identifier: CA121226
Gene: PDHA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10890
ClinVar RCV Id: RCV000011637
dbSNP Id: rs137853258

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19357683G>A , CM000685.2:g.19357683G>A GRCh38
NC_000023.10:g.19375801G>A , CM000685.1:g.19375801G>A GRCh37
NC_000023.9:g.19285722G>A NCBI36
NG_016781.1:g.18791G>A

Transcript Alleles

HGVS Amino-acid change
NM_000284.3:c.863G>A VV NP_000275.1:p.Arg288His
NM_001173454.1:c.977G>A VV NP_001166925.1:p.Arg326His
NM_001173455.1:c.884G>A VV NP_001166926.1:p.Arg295His
NM_001173456.1:c.770G>A VV NP_001166927.1:p.Arg257His
XM_011545531.1:c.998G>A XP_011543833.1:p.Arg333His
XM_011545532.1:c.905G>A XP_011543834.1:p.Arg302His
XM_017029574.2:c.884G>A XP_016885063.1:p.Arg295His
NM_000284.4:c.863G>A VV MANE Preferred NP_000275.1:p.Arg288His
ENST00000379804.1:c.20G>A ENSP00000369132.1:p.Arg7His
ENST00000379806.9:c.977G>A ENSP00000369134.5:p.Arg326His
ENST00000422285.6:c.863G>A ENSP00000394382.2:p.Arg288His
ENST00000478795.1:n.302G>A
ENST00000481733.1:n.291G>A
ENST00000540249.5:c.770G>A ENSP00000440761.1:p.Arg257His
ENST00000545074.5:c.884G>A ENSP00000438550.1:p.Arg295His