Canonical Allele Identifier: CA380120732

Gene: PDHX

Linked Data

• ClinVar Variation Id: 1707048
• ClinVar RCV Id: RCV002285964
• gnomAD v4: 11-34966765-C-T
• MyVariant Identifiers: chr11:g.34988312C>T (hg19) ; chr11:g.34966765C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966765C>T , CM000673.2:g.34966765C>T	GRCh38
NC_000011.9:g.34988312C>T , CM000673.1:g.34988312C>T	GRCh37
NC_000011.8:g.34944888C>T	NCBI36
NG_013368.1:g.55636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.587C>T	ENSP00000389404.3:p.Pro196Leu
ENST00000227868.9:c.767C>T MANE Select	ENSP00000227868.4:p.Pro256Leu
ENST00000227868.8:c.767C>T	ENSP00000227868.4:p.Pro256Leu
ENST00000430469.6:c.343-17805C>T	ENSP00000415695.2:n.343-17805C>T
ENST00000448838.7:c.722C>T	ENSP00000389404.2:p.Pro241Leu
NM_001135024.1:c.722C>T	NP_001128496.1:p.Pro241Leu
NM_001166158.1:c.343-17805C>T	NP_001159630.1:n.343-17805C>T
NM_003477.2:c.767C>T	NP_003468.2:p.Pro256Leu
XM_011520390.1:c.587C>T	XP_011518692.1:p.Pro196Leu
NM_003477.3:c.767C>T MANE Select	NP_003468.2:p.Pro256Leu
NM_001135024.2:c.587C>T	NP_001128496.2:p.Pro196Leu
NM_001166158.2:c.343-17805C>T	NP_001159630.1:n.343-17805C>T