LDH info

Canonical Allele Identifier: CA121216
Gene: PDHA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10881
ClinVar RCV Id: RCV000011628
dbSNP Id: rs137853253

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19355699A>C , CM000685.2:g.19355699A>C GRCh38
NC_000023.10:g.19373817A>C , CM000685.1:g.19373817A>C GRCh37
NC_000023.9:g.19283738A>C NCBI36
NG_016781.1:g.16807A>C

Transcript Alleles

HGVS Amino-acid change
NM_000284.3:c.773A>C VV NP_000275.1:p.Asp258Ala
NM_001173454.1:c.887A>C VV NP_001166925.1:p.Asp296Ala
NM_001173455.1:c.794A>C VV NP_001166926.1:p.Asp265Ala
NM_001173456.1:c.680A>C VV NP_001166927.1:p.Asp227Ala
XM_011545531.1:c.908A>C XP_011543833.1:p.Asp303Ala
XM_011545532.1:c.815A>C XP_011543834.1:p.Asp272Ala
XM_017029574.2:c.794A>C XP_016885063.1:p.Asp265Ala
ENST00000379804.1:c.-71A>C ENSP00000369132.1:p.=
ENST00000379806.9:c.887A>C ENSP00000369134.5:p.Asp296Ala
ENST00000422285.6:c.773A>C ENSP00000394382.2:p.Asp258Ala
ENST00000481733.1:n.201A>C
ENST00000540249.5:c.680A>C ENSP00000440761.1:p.Asp227Ala
ENST00000545074.5:c.794A>C ENSP00000438550.1:p.Asp265Ala