Canonical Allele Identifier: CA203852

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 202188
• ClinVar RCV Id: RCV000184034
• dbSNP Id: rs794729213
• COSMIC: COSM5877576 ; COSM5877577 ; COSM5877578 ; COSM5877579
• MyVariant Identifiers: chrX:g.19371203G>A (hg19) ; chrX:g.19353085G>A (hg38)
• PubMed: PMID:10679936 ; PMID:11241048

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19353085G>A , CM000685.2:g.19353085G>A	GRCh38
NC_000023.10:g.19371203G>A , CM000685.1:g.19371203G>A	GRCh37
NC_000023.9:g.19281124G>A	NCBI36
NG_016781.1:g.14193G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.443G>A	ENSP00000348062.6:p.Arg148Gln
ENST00000379805.4:c.422G>A	ENSP00000369133.3:p.Arg141Gln
ENST00000417819.6:c.506G>A	ENSP00000404616.2:p.Arg169Gln
ENST00000423505.6:c.536G>A	ENSP00000406473.2:p.Arg179Gln
ENST00000696704.1:c.418+1678G>A	ENSP00000512823.1:n.418+1678G>A
ENST00000696705.1:c.419-1406G>A	ENSP00000512824.1:n.419-1406G>A
ENST00000422285.7:c.422G>A MANE Select	ENSP00000394382.2:p.Arg141Gln
ENST00000355808.9:c.443G>A	ENSP00000348062.5:p.Arg148Gln
ENST00000379805.3:c.422G>A	ENSP00000369133.3:p.Arg141Gln
ENST00000379806.9:c.536G>A	ENSP00000369134.5:p.Arg179Gln
ENST00000422285.6:c.422G>A	ENSP00000394382.2:p.Arg141Gln
ENST00000423505.5:c.536G>A	ENSP00000406473.1:p.Arg179Gln
ENST00000479146.1:n.257G>A
ENST00000540249.5:c.422G>A	ENSP00000440761.1:p.Arg141Gln
ENST00000545074.5:c.443G>A	ENSP00000438550.1:p.Arg148Gln
NM_000284.3:c.422G>A	NP_000275.1:p.Arg141Gln
NM_001173454.1:c.536G>A	NP_001166925.1:p.Arg179Gln
NM_001173455.1:c.443G>A	NP_001166926.1:p.Arg148Gln
NM_001173456.1:c.422G>A	NP_001166927.1:p.Arg141Gln
XM_011545531.1:c.557G>A	XP_011543833.1:p.Arg186Gln
XM_011545532.1:c.557G>A	XP_011543834.1:p.Arg186Gln
XM_017029574.2:c.536G>A	XP_016885063.1:p.Arg179Gln
NM_000284.4:c.422G>A MANE Select	NP_000275.1:p.Arg141Gln
NM_001173454.2:c.536G>A	NP_001166925.1:p.Arg179Gln
NM_001173455.2:c.443G>A	NP_001166926.1:p.Arg148Gln
NM_001173456.2:c.422G>A	NP_001166927.1:p.Arg141Gln