Canonical Allele Identifier: CA16621291
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418402
ClinVar RCV Id: RCV000486536
dbSNP Id: rs1064793225

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19355491T>G , CM000685.2:g.19355491T>G GRCh38
NC_000023.10:g.19373609T>G , CM000685.1:g.19373609T>G GRCh37
NC_000023.9:g.19283530T>G NCBI36
NG_016781.1:g.16599T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.767T>G ENSP00000348062.6:p.Ile256Ser
ENST00000379805.4:c.*438T>G ENSP00000369133.3:n.*438T>G
ENST00000417819.6:c.830T>G ENSP00000404616.2:p.Ile277Ser
ENST00000423505.6:c.860T>G ENSP00000406473.2:p.Ile287Ser
ENST00000481733.2:n.541T>G
ENST00000696704.1:c.*78T>G ENSP00000512823.1:n.*78T>G
ENST00000696705.1:c.*201T>G ENSP00000512824.1:n.*201T>G
ENST00000422285.7:c.746T>G MANE Select ENSP00000394382.2:p.Ile249Ser
ENST00000379806.9:c.860T>G ENSP00000369134.5:p.Ile287Ser
ENST00000422285.6:c.746T>G ENSP00000394382.2:p.Ile249Ser
ENST00000481733.1:n.174T>G
ENST00000540249.5:c.653T>G ENSP00000440761.1:p.Ile218Ser
ENST00000545074.5:c.767T>G ENSP00000438550.1:p.Ile256Ser
NM_000284.3:c.746T>G NP_000275.1:p.Ile249Ser
NM_001173454.1:c.860T>G NP_001166925.1:p.Ile287Ser
NM_001173455.1:c.767T>G NP_001166926.1:p.Ile256Ser
NM_001173456.1:c.653T>G NP_001166927.1:p.Ile218Ser
XM_011545531.1:c.881T>G XP_011543833.1:p.Ile294Ser
XM_011545532.1:c.788T>G XP_011543834.1:p.Ile263Ser
XM_017029574.2:c.767T>G XP_016885063.1:p.Ile256Ser
NM_000284.4:c.746T>G MANE Select NP_000275.1:p.Ile249Ser
NM_001173454.2:c.860T>G NP_001166925.1:p.Ile287Ser
NM_001173455.2:c.767T>G NP_001166926.1:p.Ile256Ser
NM_001173456.2:c.653T>G NP_001166927.1:p.Ile218Ser