Canonical Allele Identifier: CA380126938

Gene: PDHX

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34995002C>T , CM000673.2:g.34995002C>T	GRCh38
NC_000011.9:g.35016549C>T , CM000673.1:g.35016549C>T	GRCh37
NC_000011.8:g.34973125C>T	NCBI36
NG_013368.1:g.83873C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003477.3:c.1336C>T MANE Select	NP_003468.2:p.Arg446Ter
ENST00000227868.9:c.1336C>T MANE Select	ENSP00000227868.4:p.Arg446Ter
NM_001135024.1:c.1291C>T	NP_001128496.1:p.Arg431Ter
NM_001135024.2:c.1156C>T	NP_001128496.2:p.Arg386Ter
NM_001166158.1:c.655C>T	NP_001159630.1:p.Arg219Ter
NM_001166158.2:c.655C>T	NP_001159630.1:p.Arg219Ter
NM_003477.2:c.1336C>T	NP_003468.2:p.Arg446Ter
ENST00000227868.8:c.1336C>T	ENSP00000227868.4:p.Arg446Ter
ENST00000430469.6:c.655C>T	ENSP00000415695.2:p.Arg219Ter
ENST00000448838.7:c.1291C>T	ENSP00000389404.2:p.Arg431Ter
ENST00000448838.8:c.1156C>T	ENSP00000389404.3:p.Arg386Ter
ENST00000477173.3:n.161+2623C>T
ENST00000526309.1:c.399C>T
XM_011520390.1:c.1156C>T	XP_011518692.1:p.Arg386Ter