Canonical Allele Identifier: CA121214

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 10879
• ClinVar RCV Id: RCV000011626 ; RCV000199671 ; RCV000622696 ; RCV003407316
• dbSNP Id: rs137853252
• gnomAD v4: X-19358920-C-T
• MyVariant Identifiers: chrX:g.19377038C>T (hg19) ; chrX:g.19358920C>T (hg38)
• PubMed: PMID:1293379 ; PMID:3034892 ; PMID:7887408 ; PMID:9671272 ; PMID:10679936 ; PMID:15384102 ; PMID:21914562 ; PMID:23021068 ; PMID:25526709 ; PMID:26008863 ; PMID:26944031 ; PMID:27144126 ; PMID:27896109

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19358920C>T , CM000685.2:g.19358920C>T	GRCh38
NC_000023.10:g.19377038C>T , CM000685.1:g.19377038C>T	GRCh37
NC_000023.9:g.19286959C>T	NCBI36
NG_016781.1:g.20028C>T
NG_021184.1:g.161342G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.925C>T	ENSP00000348062.6:p.Arg309Cys
ENST00000379805.4:c.*596C>T	ENSP00000369133.3:n.*596C>T
ENST00000417819.6:c.988C>T	ENSP00000404616.2:p.Arg330Cys
ENST00000423505.6:c.1018C>T	ENSP00000406473.2:p.Arg340Cys
ENST00000481733.2:n.699C>T
ENST00000696704.1:c.*236C>T	ENSP00000512823.1:n.*236C>T
ENST00000696705.1:c.*359C>T	ENSP00000512824.1:n.*359C>T
ENST00000422285.7:c.904C>T MANE Select	ENSP00000394382.2:p.Arg302Cys
ENST00000379804.1:c.61C>T	ENSP00000369132.1:p.Arg21Cys
ENST00000379806.9:c.1018C>T	ENSP00000369134.5:p.Arg340Cys
ENST00000422285.6:c.904C>T	ENSP00000394382.2:p.Arg302Cys
ENST00000478795.1:n.343C>T
ENST00000481733.1:n.332C>T
ENST00000540249.5:c.811C>T	ENSP00000440761.1:p.Arg271Cys
ENST00000545074.5:c.925C>T	ENSP00000438550.1:p.Arg309Cys
NM_000284.3:c.904C>T	NP_000275.1:p.Arg302Cys
NM_001173454.1:c.1018C>T	NP_001166925.1:p.Arg340Cys
NM_001173455.1:c.925C>T	NP_001166926.1:p.Arg309Cys
NM_001173456.1:c.811C>T	NP_001166927.1:p.Arg271Cys
XM_011545531.1:c.1039C>T	XP_011543833.1:p.Arg347Cys
XM_011545532.1:c.946C>T	XP_011543834.1:p.Arg316Cys
XM_017029574.2:c.925C>T	XP_016885063.1:p.Arg309Cys
NM_000284.4:c.904C>T MANE Select	NP_000275.1:p.Arg302Cys
NM_001173454.2:c.1018C>T	NP_001166925.1:p.Arg340Cys
NM_001173455.2:c.925C>T	NP_001166926.1:p.Arg309Cys
NM_001173456.2:c.811C>T	NP_001166927.1:p.Arg271Cys