Canonical Allele Identifier: CA292739

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34957479C>T , CM000673.2:g.34957479C>T	GRCh38
NC_000011.9:g.34979026C>T , CM000673.1:g.34979026C>T	GRCh37
NC_000011.8:g.34935602C>T	NCBI36
NG_013368.1:g.46350C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.258C>T	ENSP00000389404.3:p.Asp86=
ENST00000227868.9:c.438C>T MANE Select	ENSP00000227868.4:p.Asp146=
ENST00000227868.8:c.438C>T	ENSP00000227868.4:p.Asp146=
ENST00000430469.6:c.342+9873C>T	ENSP00000415695.2:n.342+9873C>T
ENST00000448838.7:c.393C>T	ENSP00000389404.2:p.Asp131=
ENST00000533262.1:c.357C>T	ENSP00000432277.1:p.Asp119=
ENST00000533550.5:c.258C>T	ENSP00000431281.1:p.Asp86=
NM_001135024.1:c.393C>T	NP_001128496.1:p.Asp131=
NM_001166158.1:c.342+9873C>T	NP_001159630.1:n.342+9873C>T
NM_003477.2:c.438C>T	NP_003468.2:p.Asp146=
XM_011520390.1:c.258C>T	XP_011518692.1:p.Asp86=
NM_003477.3:c.438C>T MANE Select	NP_003468.2:p.Asp146=
NM_001135024.2:c.258C>T	NP_001128496.2:p.Asp86=
NM_001166158.2:c.342+9873C>T	NP_001159630.1:n.342+9873C>T