Canonical Allele Identifier: CA473615492

Gene: PDHX

Linked Data

• MyVariant Identifiers: chr11:g.34988268C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966721C>A , CM000673.2:g.34966721C>A	GRCh38
NC_000011.9:g.34988268C>A , CM000673.1:g.34988268C>A	GRCh37
NC_000011.8:g.34944844C>A	NCBI36
NG_013368.1:g.55592C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.543C>A	ENSP00000389404.3:p.Pro181=
ENST00000227868.9:c.723C>A MANE Select	ENSP00000227868.4:p.Pro241=
ENST00000227868.8:c.723C>A	ENSP00000227868.4:p.Pro241=
ENST00000430469.6:c.343-17849C>A	ENSP00000415695.2:n.343-17849C>A
ENST00000448838.7:c.678C>A	ENSP00000389404.2:p.Pro226=
NM_001135024.1:c.678C>A	NP_001128496.1:p.Pro226=
NM_001166158.1:c.343-17849C>A	NP_001159630.1:n.343-17849C>A
NM_003477.2:c.723C>A	NP_003468.2:p.Pro241=
XM_011520390.1:c.543C>A	XP_011518692.1:p.Pro181=
NM_003477.3:c.723C>A MANE Select	NP_003468.2:p.Pro241=
NM_001135024.2:c.543C>A	NP_001128496.2:p.Pro181=
NM_001166158.2:c.343-17849C>A	NP_001159630.1:n.343-17849C>A