Canonical Allele Identifier: CA10603797
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281060
ClinVar RCV Id: RCV000292563
dbSNP Id: rs886042089
MyVariant Identifiers: chrX:g.19373503T>C (hg19) chrX:g.19355385T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19355385T>C , CM000685.2:g.19355385T>C GRCh38
NC_000023.10:g.19373503T>C , CM000685.1:g.19373503T>C GRCh37
NC_000023.9:g.19283424T>C NCBI36
NG_016781.1:g.16493T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.661T>C ENSP00000348062.6:p.Trp221Arg
ENST00000379805.4:c.*332T>C ENSP00000369133.3:n.*332T>C
ENST00000417819.6:c.724T>C ENSP00000404616.2:p.Trp242Arg
ENST00000423505.6:c.754T>C ENSP00000406473.2:p.Trp252Arg
ENST00000481733.2:n.435T>C
ENST00000696704.1:c.455T>C ENSP00000512823.1:p.Val152Ala
ENST00000696705.1:c.*95T>C ENSP00000512824.1:n.*95T>C
ENST00000422285.7:c.640T>C MANE Select ENSP00000394382.2:p.Trp214Arg
ENST00000379806.9:c.754T>C ENSP00000369134.5:p.Trp252Arg
ENST00000422285.6:c.640T>C ENSP00000394382.2:p.Trp214Arg
ENST00000479146.1:n.475T>C
ENST00000481733.1:n.68T>C
ENST00000540249.5:c.547T>C ENSP00000440761.1:p.Trp183Arg
ENST00000545074.5:c.661T>C ENSP00000438550.1:p.Trp221Arg
NM_000284.3:c.640T>C NP_000275.1:p.Trp214Arg
NM_001173454.1:c.754T>C NP_001166925.1:p.Trp252Arg
NM_001173455.1:c.661T>C NP_001166926.1:p.Trp221Arg
NM_001173456.1:c.547T>C NP_001166927.1:p.Trp183Arg
XM_011545531.1:c.775T>C XP_011543833.1:p.Trp259Arg
XM_011545532.1:c.682T>C XP_011543834.1:p.Trp228Arg
XM_017029574.2:c.661T>C XP_016885063.1:p.Trp221Arg
NM_000284.4:c.640T>C MANE Select NP_000275.1:p.Trp214Arg
NM_001173454.2:c.754T>C NP_001166925.1:p.Trp252Arg
NM_001173455.2:c.661T>C NP_001166926.1:p.Trp221Arg
NM_001173456.2:c.547T>C NP_001166927.1:p.Trp183Arg
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