Canonical Allele Identifier: CA412394454

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 2000808
• ClinVar RCV Id: RCV002810656
• MyVariant Identifiers: chrX:g.19373516G>A (hg19) ; chrX:g.19355398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355398G>A , CM000685.2:g.19355398G>A	GRCh38
NC_000023.10:g.19373516G>A , CM000685.1:g.19373516G>A	GRCh37
NC_000023.9:g.19283437G>A	NCBI36
NG_016781.1:g.16506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.674G>A	ENSP00000348062.6:p.Cys225Tyr
ENST00000379805.4:c.*345G>A	ENSP00000369133.3:n.*345G>A
ENST00000417819.6:c.737G>A	ENSP00000404616.2:p.Cys246Tyr
ENST00000423505.6:c.767G>A	ENSP00000406473.2:p.Cys256Tyr
ENST00000481733.2:n.448G>A
ENST00000696704.1:c.468G>A	ENSP00000512823.1:p.Leu156=
ENST00000696705.1:c.*108G>A	ENSP00000512824.1:n.*108G>A
ENST00000422285.7:c.653G>A MANE Select	ENSP00000394382.2:p.Cys218Tyr
ENST00000379806.9:c.767G>A	ENSP00000369134.5:p.Cys256Tyr
ENST00000422285.6:c.653G>A	ENSP00000394382.2:p.Cys218Tyr
ENST00000479146.1:n.488G>A
ENST00000481733.1:n.81G>A
ENST00000540249.5:c.560G>A	ENSP00000440761.1:p.Cys187Tyr
ENST00000545074.5:c.674G>A	ENSP00000438550.1:p.Cys225Tyr
NM_000284.3:c.653G>A	NP_000275.1:p.Cys218Tyr
NM_001173454.1:c.767G>A	NP_001166925.1:p.Cys256Tyr
NM_001173455.1:c.674G>A	NP_001166926.1:p.Cys225Tyr
NM_001173456.1:c.560G>A	NP_001166927.1:p.Cys187Tyr
XM_011545531.1:c.788G>A	XP_011543833.1:p.Cys263Tyr
XM_011545532.1:c.695G>A	XP_011543834.1:p.Cys232Tyr
XM_017029574.2:c.674G>A	XP_016885063.1:p.Cys225Tyr
NM_000284.4:c.653G>A MANE Select	NP_000275.1:p.Cys218Tyr
NM_001173454.2:c.767G>A	NP_001166925.1:p.Cys256Tyr
NM_001173455.2:c.674G>A	NP_001166926.1:p.Cys225Tyr
NM_001173456.2:c.560G>A	NP_001166927.1:p.Cys187Tyr