Canonical Allele Identifier: CA247055

Gene: PDHA1

Linked Data

• ClinVar Variation Id: 198412
• ClinVar RCV Id: RCV000179743 ; RCV002470795
• dbSNP Id: rs794727843
• MyVariant Identifiers: chrX:g.19373491A>G (hg19) ; chrX:g.19355373A>G (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355373A>G , CM000685.2:g.19355373A>G	GRCh38
NC_000023.10:g.19373491A>G , CM000685.1:g.19373491A>G	GRCh37
NC_000023.9:g.19283412A>G	NCBI36
NG_016781.1:g.16481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.649A>G	ENSP00000348062.6:p.Met217Val
ENST00000379805.4:c.*320A>G	ENSP00000369133.3:n.*320A>G
ENST00000417819.6:c.712A>G	ENSP00000404616.2:p.Met238Val
ENST00000423505.6:c.742A>G	ENSP00000406473.2:p.Met248Val
ENST00000481733.2:n.423A>G
ENST00000696704.1:c.443A>G	ENSP00000512823.1:p.His148Arg
ENST00000696705.1:c.*83A>G	ENSP00000512824.1:n.*83A>G
ENST00000422285.7:c.628A>G MANE Select	ENSP00000394382.2:p.Met210Val
ENST00000379806.9:c.742A>G	ENSP00000369134.5:p.Met248Val
ENST00000422285.6:c.628A>G	ENSP00000394382.2:p.Met210Val
ENST00000479146.1:n.463A>G
ENST00000481733.1:n.56A>G
ENST00000540249.5:c.535A>G	ENSP00000440761.1:p.Met179Val
ENST00000545074.5:c.649A>G	ENSP00000438550.1:p.Met217Val
NM_000284.3:c.628A>G	NP_000275.1:p.Met210Val
NM_001173454.1:c.742A>G	NP_001166925.1:p.Met248Val
NM_001173455.1:c.649A>G	NP_001166926.1:p.Met217Val
NM_001173456.1:c.535A>G	NP_001166927.1:p.Met179Val
XM_011545531.1:c.763A>G	XP_011543833.1:p.Met255Val
XM_011545532.1:c.670A>G	XP_011543834.1:p.Met224Val
XM_017029574.2:c.649A>G	XP_016885063.1:p.Met217Val
NM_000284.4:c.628A>G MANE Select	NP_000275.1:p.Met210Val
NM_001173454.2:c.742A>G	NP_001166925.1:p.Met248Val
NM_001173455.2:c.649A>G	NP_001166926.1:p.Met217Val
NM_001173456.2:c.535A>G	NP_001166927.1:p.Met179Val