Canonical Allele Identifier: CA320653

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 214938
• ClinVar RCV Id: RCV000505722 ; RCV000624128 ; RCV000692713 ; RCV001814100 ; RCV001796727
• dbSNP Id: rs863224148
• MyVariant Identifiers: chrX:g.19368151C>T (hg19) ; chrX:g.19350033C>T (hg38)
• ERepo: CA320653/MONDO:0019169/014
• PubMed: PMID:7887408 ; 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.19350033C>T , CM000685.2:g.19350033C>T	GRCh38
NC_000023.10:g.19368151C>T , CM000685.1:g.19368151C>T	GRCh37
NC_000023.9:g.19278072C>T	NCBI36
NG_016781.1:g.11141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.214C>T	ENSP00000348062.6:p.Arg72Cys
ENST00000379805.4:c.214C>T	ENSP00000369133.3:p.Arg72Cys
ENST00000417819.6:c.298C>T	ENSP00000404616.2:p.Arg100Cys
ENST00000423505.6:c.328C>T	ENSP00000406473.2:p.Arg110Cys
ENST00000696704.1:c.214C>T	ENSP00000512823.1:p.Arg72Cys
ENST00000696705.1:c.214C>T	ENSP00000512824.1:p.Arg72Cys
ENST00000422285.7:c.214C>T MANE Select	ENSP00000394382.2:p.Arg72Cys
ENST00000355808.9:c.214C>T	ENSP00000348062.5:p.Arg72Cys
ENST00000379805.3:c.214C>T	ENSP00000369133.3:p.Arg72Cys
ENST00000379806.9:c.328C>T	ENSP00000369134.5:p.Arg110Cys
ENST00000417819.5:c.298C>T	ENSP00000404616.1:p.Arg100Cys
ENST00000422285.6:c.214C>T	ENSP00000394382.2:p.Arg72Cys
ENST00000423505.5:c.328C>T	ENSP00000406473.1:p.Arg110Cys
ENST00000492364.1:n.316C>T
ENST00000540249.5:c.214C>T	ENSP00000440761.1:p.Arg72Cys
ENST00000545074.5:c.214C>T	ENSP00000438550.1:p.Arg72Cys
NM_000284.3:c.214C>T	NP_000275.1:p.Arg72Cys
NM_001173454.1:c.328C>T	NP_001166925.1:p.Arg110Cys
NM_001173455.1:c.214C>T	NP_001166926.1:p.Arg72Cys
NM_001173456.1:c.214C>T	NP_001166927.1:p.Arg72Cys
XM_011545531.1:c.328C>T	XP_011543833.1:p.Arg110Cys
XM_011545532.1:c.328C>T	XP_011543834.1:p.Arg110Cys
XM_017029574.2:c.328C>T	XP_016885063.1:p.Arg110Cys
NM_000284.4:c.214C>T MANE Select	NP_000275.1:p.Arg72Cys
NM_001173454.2:c.328C>T	NP_001166925.1:p.Arg110Cys
NM_001173455.2:c.214C>T	NP_001166926.1:p.Arg72Cys
NM_001173456.2:c.214C>T	NP_001166927.1:p.Arg72Cys