Canonical Allele Identifier: CA2516828573

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34995914C>A , CM000673.2:g.34995914C>A	GRCh38
NC_000011.9:g.35017461C>A , CM000673.1:g.35017461C>A	GRCh37
NC_000011.8:g.34974037C>A	NCBI36
NG_013368.1:g.84785C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.*742C>A	ENSP00000389404.3:n.*742C>A
ENST00000227868.9:c.*742C>A MANE Select	ENSP00000227868.4:n.*742C>A
ENST00000227868.8:c.*742C>A	ENSP00000227868.4:n.*742C>A
ENST00000448838.7:c.*742C>A	ENSP00000389404.2:n.*742C>A
ENST00000477173.3:n.161+3535C>A
NM_001135024.1:c.*742C>A	NP_001128496.1:n.*742C>A
NM_001166158.1:c.*742C>A	NP_001159630.1:n.*742C>A
NM_003477.2:c.*742C>A	NP_003468.2:n.*742C>A
XM_011520390.1:c.*742C>A	XP_011518692.1:n.*742C>A
NM_003477.3:c.*742C>A MANE Select	NP_003468.2:n.*742C>A
NM_001135024.2:c.*742C>A	NP_001128496.2:n.*742C>A
NM_001166158.2:c.*742C>A	NP_001159630.1:n.*742C>A