Canonical Allele Identifier: CA10588754
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265640
ClinVar RCV Id: RCV000255781
dbSNP Id: rs886039690
MyVariant Identifiers: chrX:g.19373803G>T (hg19) chrX:g.19355685G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.19355685G>T , CM000685.2:g.19355685G>T GRCh38
NC_000023.10:g.19373803G>T , CM000685.1:g.19373803G>T GRCh37
NC_000023.9:g.19283724G>T NCBI36
NG_016781.1:g.16793G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355808.10:c.781-1G>T ENSP00000348062.6:n.781-1G>T
ENST00000379805.4:c.*452-1G>T ENSP00000369133.3:n.*452-1G>T
ENST00000417819.6:c.844-1G>T ENSP00000404616.2:n.844-1G>T
ENST00000423505.6:c.874-1G>T ENSP00000406473.2:n.874-1G>T
ENST00000481733.2:n.555-1G>T
ENST00000696704.1:c.*92-1G>T ENSP00000512823.1:n.*92-1G>T
ENST00000696705.1:c.*215-1G>T ENSP00000512824.1:n.*215-1G>T
ENST00000422285.7:c.760-1G>T MANE Select ENSP00000394382.2:n.760-1G>T
ENST00000379804.1:c.-85G>T ENSP00000369132.1:n.-85G>T
ENST00000379806.9:c.874-1G>T ENSP00000369134.5:n.874-1G>T
ENST00000422285.6:c.760-1G>T ENSP00000394382.2:n.760-1G>T
ENST00000481733.1:n.188-1G>T
ENST00000540249.5:c.667-1G>T ENSP00000440761.1:n.667-1G>T
ENST00000545074.5:c.781-1G>T ENSP00000438550.1:n.781-1G>T
NM_000284.3:c.760-1G>T NP_000275.1:n.760-1G>T
NM_001173454.1:c.874-1G>T NP_001166925.1:n.874-1G>T
NM_001173455.1:c.781-1G>T NP_001166926.1:n.781-1G>T
NM_001173456.1:c.667-1G>T NP_001166927.1:n.667-1G>T
XM_011545531.1:c.895-1G>T XP_011543833.1:n.895-1G>T
XM_011545532.1:c.802-1G>T XP_011543834.1:n.802-1G>T
XM_017029574.2:c.781-1G>T XP_016885063.1:n.781-1G>T
NM_000284.4:c.760-1G>T MANE Select NP_000275.1:n.760-1G>T
NM_001173454.2:c.874-1G>T NP_001166925.1:n.874-1G>T
NM_001173455.2:c.781-1G>T NP_001166926.1:n.781-1G>T
NM_001173456.2:c.667-1G>T NP_001166927.1:n.667-1G>T
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