Canonical Allele Identifier: CA473615503

Gene: PDHX

Linked Data

• dbSNP Id: rs1170742872
• MyVariant Identifiers: chr11:g.34988274A>T (hg19) ; chr11:g.34966727A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966727A>T , CM000673.2:g.34966727A>T	GRCh38
NC_000011.9:g.34988274A>T , CM000673.1:g.34988274A>T	GRCh37
NC_000011.8:g.34944850A>T	NCBI36
NG_013368.1:g.55598A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.549A>T	ENSP00000389404.3:p.Ala183=
ENST00000227868.9:c.729A>T MANE Select	ENSP00000227868.4:p.Ala243=
ENST00000227868.8:c.729A>T	ENSP00000227868.4:p.Ala243=
ENST00000430469.6:c.343-17843A>T	ENSP00000415695.2:n.343-17843A>T
ENST00000448838.7:c.684A>T	ENSP00000389404.2:p.Ala228=
NM_001135024.1:c.684A>T	NP_001128496.1:p.Ala228=
NM_001166158.1:c.343-17843A>T	NP_001159630.1:n.343-17843A>T
NM_003477.2:c.729A>T	NP_003468.2:p.Ala243=
XM_011520390.1:c.549A>T	XP_011518692.1:p.Ala183=
NM_003477.3:c.729A>T MANE Select	NP_003468.2:p.Ala243=
NM_001135024.2:c.549A>T	NP_001128496.2:p.Ala183=
NM_001166158.2:c.343-17843A>T	NP_001159630.1:n.343-17843A>T