Canonical Allele Identifier: CA473615431

Gene: PDHX

Linked Data

• dbSNP Id: rs1299587086
• MyVariant Identifiers: chr11:g.34988241A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966694A>G , CM000673.2:g.34966694A>G	GRCh38
NC_000011.9:g.34988241A>G , CM000673.1:g.34988241A>G	GRCh37
NC_000011.8:g.34944817A>G	NCBI36
NG_013368.1:g.55565A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.516A>G	ENSP00000389404.3:p.Arg172=
ENST00000227868.9:c.696A>G MANE Select	ENSP00000227868.4:p.Arg232=
ENST00000227868.8:c.696A>G	ENSP00000227868.4:p.Arg232=
ENST00000430469.6:c.343-17876A>G	ENSP00000415695.2:n.343-17876A>G
ENST00000448838.7:c.651A>G	ENSP00000389404.2:p.Arg217=
NM_001135024.1:c.651A>G	NP_001128496.1:p.Arg217=
NM_001166158.1:c.343-17876A>G	NP_001159630.1:n.343-17876A>G
NM_003477.2:c.696A>G	NP_003468.2:p.Arg232=
XM_011520390.1:c.516A>G	XP_011518692.1:p.Arg172=
NM_003477.3:c.696A>G MANE Select	NP_003468.2:p.Arg232=
NM_001135024.2:c.516A>G	NP_001128496.2:p.Arg172=
NM_001166158.2:c.343-17876A>G	NP_001159630.1:n.343-17876A>G