Canonical Allele Identifier: CA5945863

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34957452T>C , CM000673.2:g.34957452T>C	GRCh38
NC_000011.9:g.34978999T>C , CM000673.1:g.34978999T>C	GRCh37
NC_000011.8:g.34935575T>C	NCBI36
NG_013368.1:g.46323T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003477.3:c.411T>C MANE Select	NP_003468.2:p.Asp137=
ENST00000227868.9:c.411T>C MANE Select	ENSP00000227868.4:p.Asp137=
NM_001135024.1:c.366T>C	NP_001128496.1:p.Asp122=
NM_001135024.2:c.231T>C	NP_001128496.2:p.Asp77=
NM_001166158.1:c.342+9846T>C	NP_001159630.1:n.342+9846T>C
NM_001166158.2:c.342+9846T>C	NP_001159630.1:n.342+9846T>C
NM_003477.2:c.411T>C	NP_003468.2:p.Asp137=
ENST00000227868.8:c.411T>C	ENSP00000227868.4:p.Asp137=
ENST00000430469.6:c.342+9846T>C	ENSP00000415695.2:n.342+9846T>C
ENST00000448838.7:c.366T>C	ENSP00000389404.2:p.Asp122=
ENST00000448838.8:c.231T>C	ENSP00000389404.3:p.Asp77=
ENST00000533262.1:c.330T>C	ENSP00000432277.1:p.Asp110=
ENST00000533550.5:c.231T>C	ENSP00000431281.1:p.Asp77=
XM_011520390.1:c.231T>C	XP_011518692.1:p.Asp77=