Canonical Allele Identifier: CA412394554

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 650357
• ClinVar RCV Id: RCV000805497
• dbSNP Id: rs1272572107
• MyVariant Identifiers: chrX:g.19373555C>G (hg19) ; chrX:g.19355437C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355437C>G , CM000685.2:g.19355437C>G	GRCh38
NC_000023.10:g.19373555C>G , CM000685.1:g.19373555C>G	GRCh37
NC_000023.9:g.19283476C>G	NCBI36
NG_016781.1:g.16545C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.713C>G	ENSP00000348062.6:p.Thr238Arg
ENST00000379805.4:c.*384C>G	ENSP00000369133.3:n.*384C>G
ENST00000417819.6:c.776C>G	ENSP00000404616.2:p.Thr259Arg
ENST00000423505.6:c.806C>G	ENSP00000406473.2:p.Thr269Arg
ENST00000481733.2:n.487C>G
ENST00000696704.1:c.*24C>G	ENSP00000512823.1:n.*24C>G
ENST00000696705.1:c.*147C>G	ENSP00000512824.1:n.*147C>G
ENST00000422285.7:c.692C>G MANE Select	ENSP00000394382.2:p.Thr231Arg
ENST00000379806.9:c.806C>G	ENSP00000369134.5:p.Thr269Arg
ENST00000422285.6:c.692C>G	ENSP00000394382.2:p.Thr231Arg
ENST00000479146.1:n.527C>G
ENST00000481733.1:n.120C>G
ENST00000540249.5:c.599C>G	ENSP00000440761.1:p.Thr200Arg
ENST00000545074.5:c.713C>G	ENSP00000438550.1:p.Thr238Arg
NM_000284.3:c.692C>G	NP_000275.1:p.Thr231Arg
NM_001173454.1:c.806C>G	NP_001166925.1:p.Thr269Arg
NM_001173455.1:c.713C>G	NP_001166926.1:p.Thr238Arg
NM_001173456.1:c.599C>G	NP_001166927.1:p.Thr200Arg
XM_011545531.1:c.827C>G	XP_011543833.1:p.Thr276Arg
XM_011545532.1:c.734C>G	XP_011543834.1:p.Thr245Arg
XM_017029574.2:c.713C>G	XP_016885063.1:p.Thr238Arg
NM_000284.4:c.692C>G MANE Select	NP_000275.1:p.Thr231Arg
NM_001173454.2:c.806C>G	NP_001166925.1:p.Thr269Arg
NM_001173455.2:c.713C>G	NP_001166926.1:p.Thr238Arg
NM_001173456.2:c.599C>G	NP_001166927.1:p.Thr200Arg