Canonical Allele Identifier: CA412394470

Gene: PDHA1

Linked Data

• MyVariant Identifiers: chrX:g.19373522T>G (hg19) ; chrX:g.19355404T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19355404T>G , CM000685.2:g.19355404T>G	GRCh38
NC_000023.10:g.19373522T>G , CM000685.1:g.19373522T>G	GRCh37
NC_000023.9:g.19283443T>G	NCBI36
NG_016781.1:g.16512T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355808.10:c.680T>G	ENSP00000348062.6:p.Phe227Cys
ENST00000379805.4:c.*351T>G	ENSP00000369133.3:n.*351T>G
ENST00000417819.6:c.743T>G	ENSP00000404616.2:p.Phe248Cys
ENST00000423505.6:c.773T>G	ENSP00000406473.2:p.Phe258Cys
ENST00000481733.2:n.454T>G
ENST00000696704.1:c.474T>G	ENSP00000512823.1:p.Phe158Leu
ENST00000696705.1:c.*114T>G	ENSP00000512824.1:n.*114T>G
ENST00000422285.7:c.659T>G MANE Select	ENSP00000394382.2:p.Phe220Cys
ENST00000379806.9:c.773T>G	ENSP00000369134.5:p.Phe258Cys
ENST00000422285.6:c.659T>G	ENSP00000394382.2:p.Phe220Cys
ENST00000479146.1:n.494T>G
ENST00000481733.1:n.87T>G
ENST00000540249.5:c.566T>G	ENSP00000440761.1:p.Phe189Cys
ENST00000545074.5:c.680T>G	ENSP00000438550.1:p.Phe227Cys
NM_000284.3:c.659T>G	NP_000275.1:p.Phe220Cys
NM_001173454.1:c.773T>G	NP_001166925.1:p.Phe258Cys
NM_001173455.1:c.680T>G	NP_001166926.1:p.Phe227Cys
NM_001173456.1:c.566T>G	NP_001166927.1:p.Phe189Cys
XM_011545531.1:c.794T>G	XP_011543833.1:p.Phe265Cys
XM_011545532.1:c.701T>G	XP_011543834.1:p.Phe234Cys
XM_017029574.2:c.680T>G	XP_016885063.1:p.Phe227Cys
NM_000284.4:c.659T>G MANE Select	NP_000275.1:p.Phe220Cys
NM_001173454.2:c.773T>G	NP_001166925.1:p.Phe258Cys
NM_001173455.2:c.680T>G	NP_001166926.1:p.Phe227Cys
NM_001173456.2:c.566T>G	NP_001166927.1:p.Phe189Cys