Canonical Allele Identifier: CA10363173
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 378343
ClinVar RCV Id: RCV001526401 RCV002314157 RCV003950363
dbSNP Id: rs2228067
ExAC: X:19377133 A / C
gnomAD v2: X-19377133-A-C
gnomAD v3: X-19359015-A-C
gnomAD v4: X-19359015-A-C
MyVariant Identifiers: chrX:g.19377133A>C (hg19) chrX:g.19359015A>C (hg38)
ERepo: CA10363173/MONDO:0019169/014
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19359015A>C , CM000685.2:g.19359015A>C GRCh38
NC_000023.10:g.19377133A>C , CM000685.1:g.19377133A>C GRCh37
NC_000023.9:g.19287054A>C NCBI36
NG_016781.1:g.20123A>C
NG_021184.1:g.161247T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.1020A>C ENSP00000348062.6:p.Glu340Asp
ENST00000379805.4:c.*691A>C ENSP00000369133.3:n.*691A>C
ENST00000417819.6:c.1083A>C ENSP00000404616.2:p.Glu361Asp
ENST00000423505.6:c.1113A>C ENSP00000406473.2:p.Glu371Asp
ENST00000481733.2:n.794A>C
ENST00000696704.1:c.*331A>C ENSP00000512823.1:n.*331A>C
ENST00000696705.1:c.*454A>C ENSP00000512824.1:n.*454A>C
ENST00000422285.7:c.999A>C MANE Select ENSP00000394382.2:p.Glu333Asp
ENST00000379804.1:c.156A>C ENSP00000369132.1:p.Glu52Asp
ENST00000379806.9:c.1113A>C ENSP00000369134.5:p.Glu371Asp
ENST00000422285.6:c.999A>C ENSP00000394382.2:p.Glu333Asp
ENST00000478795.1:n.438A>C
ENST00000481733.1:n.427A>C
ENST00000540249.5:c.906A>C ENSP00000440761.1:p.Glu302Asp
ENST00000545074.5:c.1020A>C ENSP00000438550.1:p.Glu340Asp
NM_000284.3:c.999A>C NP_000275.1:p.Glu333Asp
NM_001173454.1:c.1113A>C NP_001166925.1:p.Glu371Asp
NM_001173455.1:c.1020A>C NP_001166926.1:p.Glu340Asp
NM_001173456.1:c.906A>C NP_001166927.1:p.Glu302Asp
XM_011545531.1:c.1134A>C XP_011543833.1:p.Glu378Asp
XM_011545532.1:c.1041A>C XP_011543834.1:p.Glu347Asp
XM_017029574.2:c.1020A>C XP_016885063.1:p.Glu340Asp
NM_000284.4:c.999A>C MANE Select NP_000275.1:p.Glu333Asp
NM_001173454.2:c.1113A>C NP_001166925.1:p.Glu371Asp
NM_001173455.2:c.1020A>C NP_001166926.1:p.Glu340Asp
NM_001173456.2:c.906A>C NP_001166927.1:p.Glu302Asp
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