Canonical Allele Identifier: CA319929
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214947
dbSNP Id: rs863224156

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359639_19359642dup , CM000685.2:g.19359639_19359642dup GRCh38
NC_000023.10:g.19377757_19377760dup , CM000685.1:g.19377757_19377760dup GRCh37
NC_000023.9:g.19287678_19287681dup NCBI36
NG_016781.1:g.20747_20750dup
NG_021184.1:g.160621_160624dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1180_1183dup ENSP00000348062.6:p.Ser395Ter
ENST00000379805.4:c.*851_*854dup ENSP00000369133.3:n.*851_*854dup
ENST00000417819.6:c.1243_1246dup ENSP00000404616.2:p.Ser416Ter
ENST00000423505.6:c.1273_1276dup ENSP00000406473.2:p.Ser426Ter
ENST00000481733.2:n.954_957dup
ENST00000696704.1:c.*491_*494dup ENSP00000512823.1:n.*491_*494dup
ENST00000696705.1:c.*614_*617dup ENSP00000512824.1:n.*614_*617dup
ENST00000422285.7:c.1159_1162dup MANE Select ENSP00000394382.2:p.Ser388Ter
ENST00000379804.1:c.316_319dup ENSP00000369132.1:p.Ser107Ter
ENST00000379806.9:c.1273_1276dup ENSP00000369134.5:p.Ser426Ter
ENST00000422285.6:c.1159_1162dup ENSP00000394382.2:p.Ser388Ter
ENST00000478795.1:n.598_601dup
ENST00000540249.5:c.1066_1069dup ENSP00000440761.1:p.Ser357Ter
ENST00000545074.5:c.1180_1183dup ENSP00000438550.1:p.Ser395Ter
NM_000284.3:c.1159_1162dup NP_000275.1:p.Ser388Ter
NM_001173454.1:c.1273_1276dup NP_001166925.1:p.Ser426Ter
NM_001173455.1:c.1180_1183dup NP_001166926.1:p.Ser395Ter
NM_001173456.1:c.1066_1069dup NP_001166927.1:p.Ser357Ter
XM_011545531.1:c.1294_1297dup XP_011543833.1:p.Ser433Ter
XM_011545532.1:c.1201_1204dup XP_011543834.1:p.Ser402Ter
XM_017029574.2:c.1180_1183dup XP_016885063.1:p.Ser395Ter
NM_000284.4:c.1159_1162dup MANE Select NP_000275.1:p.Ser388Ter
NM_001173454.2:c.1273_1276dup NP_001166925.1:p.Ser426Ter
NM_001173455.2:c.1180_1183dup NP_001166926.1:p.Ser395Ter
NM_001173456.2:c.1066_1069dup NP_001166927.1:p.Ser357Ter