LDH info

Canonical Allele Identifier: CA121218
Gene: PDHA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10883
ClinVar RCV Id: RCV000011630
dbSNP Id: rs137853255

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19355472T>A , CM000685.2:g.19355472T>A GRCh38
NC_000023.10:g.19373590T>A , CM000685.1:g.19373590T>A GRCh37
NC_000023.9:g.19283511T>A NCBI36
NG_016781.1:g.16580T>A

Transcript Alleles

HGVS Amino-acid change
NM_000284.3:c.727T>A VV NP_000275.1:p.Tyr243Asn
NM_001173454.1:c.841T>A VV NP_001166925.1:p.Tyr281Asn
NM_001173455.1:c.748T>A VV NP_001166926.1:p.Tyr250Asn
NM_001173456.1:c.634T>A VV NP_001166927.1:p.Tyr212Asn
XM_011545531.1:c.862T>A XP_011543833.1:p.Tyr288Asn
XM_011545532.1:c.769T>A XP_011543834.1:p.Tyr257Asn
XM_017029574.2:c.748T>A XP_016885063.1:p.Tyr250Asn
NM_000284.4:c.727T>A VV MANE Preferred NP_000275.1:p.Tyr243Asn
ENST00000379806.9:c.841T>A ENSP00000369134.5:p.Tyr281Asn
ENST00000422285.6:c.727T>A ENSP00000394382.2:p.Tyr243Asn
ENST00000481733.1:n.155T>A
ENST00000540249.5:c.634T>A ENSP00000440761.1:p.Tyr212Asn
ENST00000545074.5:c.748T>A ENSP00000438550.1:p.Tyr250Asn