LDH info

Canonical Allele Identifier: CA323384
Gene: PDHA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 214944
ClinVar RCV Id: RCV000198854
dbSNP Id: rs863224153

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19358952_19358955del , CM000685.2:g.19358952_19358955del GRCh38
NC_000023.10:g.19377070_19377073del , CM000685.1:g.19377070_19377073del GRCh37
NC_000023.9:g.19286991_19286994del NCBI36
NG_016781.1:g.20060_20063del
NG_021184.1:g.161310_161313del

Transcript Alleles

HGVS Amino-acid change
NM_000284.3:c.936_939del VV NP_000275.1:p.Ser312ArgfsTer13
NM_001173454.1:c.1050_1053del VV NP_001166925.1:p.Ser350ArgfsTer13
NM_001173455.1:c.957_960del VV NP_001166926.1:p.Ser319ArgfsTer13
NM_001173456.1:c.843_846del VV NP_001166927.1:p.Ser281ArgfsTer13
XM_011545531.1:c.1071_1074del XP_011543833.1:p.Ser357ArgfsTer13
XM_011545532.1:c.978_981del XP_011543834.1:p.Ser326ArgfsTer13
XM_017029574.2:c.957_960del XP_016885063.1:p.Ser319ArgfsTer13
ENST00000379804.1:c.93_96del ENSP00000369132.1:p.Ser31ArgfsTer13
ENST00000379806.9:c.1050_1053del ENSP00000369134.5:p.Ser350ArgfsTer13
ENST00000422285.6:c.936_939del ENSP00000394382.2:p.Ser312ArgfsTer13
ENST00000478795.1:n.375_378del
ENST00000481733.1:n.364_367del
ENST00000540249.5:c.843_846del ENSP00000440761.1:p.Ser281ArgfsTer13
ENST00000545074.5:c.957_960del ENSP00000438550.1:p.Ser319ArgfsTer13