Canonical Allele Identifier: CA5945962

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966686G>A , CM000673.2:g.34966686G>A	GRCh38
NC_000011.9:g.34988233G>A , CM000673.1:g.34988233G>A	GRCh37
NC_000011.8:g.34944809G>A	NCBI36
NG_013368.1:g.55557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.508G>A	ENSP00000389404.3:p.Glu170Lys
ENST00000227868.9:c.688G>A MANE Select	ENSP00000227868.4:p.Glu230Lys
ENST00000227868.8:c.688G>A	ENSP00000227868.4:p.Glu230Lys
ENST00000430469.6:c.343-17884G>A	ENSP00000415695.2:n.343-17884G>A
ENST00000448838.7:c.643G>A	ENSP00000389404.2:p.Glu215Lys
NM_001135024.1:c.643G>A	NP_001128496.1:p.Glu215Lys
NM_001166158.1:c.343-17884G>A	NP_001159630.1:n.343-17884G>A
NM_003477.2:c.688G>A	NP_003468.2:p.Glu230Lys
XM_011520390.1:c.508G>A	XP_011518692.1:p.Glu170Lys
NM_003477.3:c.688G>A MANE Select	NP_003468.2:p.Glu230Lys
NM_001135024.2:c.508G>A	NP_001128496.2:p.Glu170Lys
NM_001166158.2:c.343-17884G>A	NP_001159630.1:n.343-17884G>A