Canonical Allele Identifier: CA10363031
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 445760
dbSNP Id: rs138727886
gnomAD v2: X-19369513-G-A
gnomAD v3: X-19351395-G-A
gnomAD v4: X-19351395-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19351395G>A , CM000685.2:g.19351395G>A GRCh38
NC_000023.10:g.19369513G>A , CM000685.1:g.19369513G>A GRCh37
NC_000023.9:g.19279434G>A NCBI36
NG_016781.1:g.12503G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.427G>A ENSP00000348062.6:p.Ala143Thr
ENST00000379805.4:c.406G>A ENSP00000369133.3:p.Ala136Thr
ENST00000417819.6:c.490G>A ENSP00000404616.2:p.Ala164Thr
ENST00000423505.6:c.520G>A ENSP00000406473.2:p.Ala174Thr
ENST00000696704.1:c.406G>A ENSP00000512823.1:p.Ala136Thr
ENST00000696705.1:c.406G>A ENSP00000512824.1:p.Ala136Thr
ENST00000422285.7:c.406G>A MANE Select ENSP00000394382.2:p.Ala136Thr
ENST00000355808.9:c.427G>A ENSP00000348062.5:p.Ala143Thr
ENST00000379805.3:c.406G>A ENSP00000369133.3:p.Ala136Thr
ENST00000379806.9:c.520G>A ENSP00000369134.5:p.Ala174Thr
ENST00000422285.6:c.406G>A ENSP00000394382.2:p.Ala136Thr
ENST00000423505.5:c.520G>A ENSP00000406473.1:p.Ala174Thr
ENST00000492364.1:n.508G>A
ENST00000540249.5:c.406G>A ENSP00000440761.1:p.Ala136Thr
ENST00000545074.5:c.427G>A ENSP00000438550.1:p.Ala143Thr
NM_000284.3:c.406G>A NP_000275.1:p.Ala136Thr
NM_001173454.1:c.520G>A NP_001166925.1:p.Ala174Thr
NM_001173455.1:c.427G>A NP_001166926.1:p.Ala143Thr
NM_001173456.1:c.406G>A NP_001166927.1:p.Ala136Thr
XM_011545531.1:c.541G>A XP_011543833.1:p.Ala181Thr
XM_011545532.1:c.541G>A XP_011543834.1:p.Ala181Thr
XM_017029574.2:c.520G>A XP_016885063.1:p.Ala174Thr
NM_000284.4:c.406G>A MANE Select NP_000275.1:p.Ala136Thr
NM_001173454.2:c.520G>A NP_001166925.1:p.Ala174Thr
NM_001173455.2:c.427G>A NP_001166926.1:p.Ala143Thr
NM_001173456.2:c.406G>A NP_001166927.1:p.Ala136Thr