Canonical Allele Identifier: CA412390881

Gene: PDHA1

Linked Data

• COSMIC: COSM5367124 ; COSM5367125 ; COSM5367126 ; COSM5367127
• MyVariant Identifiers: chrX:g.19369409G>A (hg19) ; chrX:g.19351291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19351291G>A , CM000685.2:g.19351291G>A	GRCh38
NC_000023.10:g.19369409G>A , CM000685.1:g.19369409G>A	GRCh37
NC_000023.9:g.19279330G>A	NCBI36
NG_016781.1:g.12399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.323G>A	ENSP00000348062.6:p.Cys108Tyr
ENST00000379805.4:c.302G>A	ENSP00000369133.3:p.Cys101Tyr
ENST00000417819.6:c.386G>A	ENSP00000404616.2:p.Cys129Tyr
ENST00000423505.6:c.416G>A	ENSP00000406473.2:p.Cys139Tyr
ENST00000696704.1:c.302G>A	ENSP00000512823.1:p.Cys101Tyr
ENST00000696705.1:c.302G>A	ENSP00000512824.1:p.Cys101Tyr
ENST00000422285.7:c.302G>A MANE Select	ENSP00000394382.2:p.Cys101Tyr
ENST00000355808.9:c.323G>A	ENSP00000348062.5:p.Cys108Tyr
ENST00000379805.3:c.302G>A	ENSP00000369133.3:p.Cys101Tyr
ENST00000379806.9:c.416G>A	ENSP00000369134.5:p.Cys139Tyr
ENST00000422285.6:c.302G>A	ENSP00000394382.2:p.Cys101Tyr
ENST00000423505.5:c.416G>A	ENSP00000406473.1:p.Cys139Tyr
ENST00000492364.1:n.404G>A
ENST00000540249.5:c.302G>A	ENSP00000440761.1:p.Cys101Tyr
ENST00000545074.5:c.323G>A	ENSP00000438550.1:p.Cys108Tyr
NM_000284.3:c.302G>A	NP_000275.1:p.Cys101Tyr
NM_001173454.1:c.416G>A	NP_001166925.1:p.Cys139Tyr
NM_001173455.1:c.323G>A	NP_001166926.1:p.Cys108Tyr
NM_001173456.1:c.302G>A	NP_001166927.1:p.Cys101Tyr
XM_011545531.1:c.437G>A	XP_011543833.1:p.Cys146Tyr
XM_011545532.1:c.437G>A	XP_011543834.1:p.Cys146Tyr
XM_017029574.2:c.416G>A	XP_016885063.1:p.Cys139Tyr
NM_000284.4:c.302G>A MANE Select	NP_000275.1:p.Cys101Tyr
NM_001173454.2:c.416G>A	NP_001166925.1:p.Cys139Tyr
NM_001173455.2:c.323G>A	NP_001166926.1:p.Cys108Tyr
NM_001173456.2:c.302G>A	NP_001166927.1:p.Cys101Tyr