LDH info

Canonical Allele Identifier: CA121215
Gene: PDHA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10880
dbSNP Id: rs606231189

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359622_19359625dup , CM000685.2:g.19359622_19359625dup GRCh38
NC_000023.10:g.19377740_19377743dup , CM000685.1:g.19377740_19377743dup GRCh37
NC_000023.9:g.19287661_19287664dup NCBI36
NG_016781.1:g.20730_20733dup
NG_021184.1:g.160639_160642dup

Transcript Alleles

HGVS Amino-acid change
NM_000284.3:c.1142_1145dup VV NP_000275.1:p.Trp383SerfsTer6
NM_001173454.1:c.1256_1259dup VV NP_001166925.1:p.Trp421SerfsTer6
NM_001173455.1:c.1163_1166dup VV NP_001166926.1:p.Trp390SerfsTer6
NM_001173456.1:c.1049_1052dup VV NP_001166927.1:p.Trp352SerfsTer6
XM_011545531.1:c.1277_1280dup XP_011543833.1:p.Trp428SerfsTer6
XM_011545532.1:c.1184_1187dup XP_011543834.1:p.Trp397SerfsTer6
XM_017029574.2:c.1163_1166dup XP_016885063.1:p.Trp390SerfsTer6
ENST00000379804.1:c.299_302dup ENSP00000369132.1:p.Trp102SerfsTer6
ENST00000379806.9:c.1256_1259dup ENSP00000369134.5:p.Trp421SerfsTer6
ENST00000422285.6:c.1142_1145dup ENSP00000394382.2:p.Trp383SerfsTer6
ENST00000478795.1:n.581_584dup
ENST00000540249.5:c.1049_1052dup ENSP00000440761.1:p.Trp352SerfsTer6
ENST00000545074.5:c.1163_1166dup ENSP00000438550.1:p.Trp390SerfsTer6