Canonical Allele Identifier: CA473615598

Gene: PDHX

Linked Data

• MyVariant Identifiers: chr11:g.34988340T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966793T>G , CM000673.2:g.34966793T>G	GRCh38
NC_000011.9:g.34988340T>G , CM000673.1:g.34988340T>G	GRCh37
NC_000011.8:g.34944916T>G	NCBI36
NG_013368.1:g.55664T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.615T>G	ENSP00000389404.3:p.Thr205=
ENST00000227868.9:c.795T>G MANE Select	ENSP00000227868.4:p.Thr265=
ENST00000227868.8:c.795T>G	ENSP00000227868.4:p.Thr265=
ENST00000430469.6:c.343-17777T>G	ENSP00000415695.2:n.343-17777T>G
ENST00000448838.7:c.750T>G	ENSP00000389404.2:p.Thr250=
NM_001135024.1:c.750T>G	NP_001128496.1:p.Thr250=
NM_001166158.1:c.343-17777T>G	NP_001159630.1:n.343-17777T>G
NM_003477.2:c.795T>G	NP_003468.2:p.Thr265=
XM_011520390.1:c.615T>G	XP_011518692.1:p.Thr205=
NM_003477.3:c.795T>G MANE Select	NP_003468.2:p.Thr265=
NM_001135024.2:c.615T>G	NP_001128496.2:p.Thr205=
NM_001166158.2:c.343-17777T>G	NP_001159630.1:n.343-17777T>G