Canonical Allele Identifier: CA5945970

Gene: PDHX

Linked Data

• ClinVar Variation Id: 1343871
• ClinVar RCV Id: RCV001847416
• dbSNP Id: rs151100443
• ExAC: 11:34988252 C / A
• gnomAD v2: 11-34988252-C-A
• gnomAD v3: 11-34966705-C-A
• gnomAD v4: 11-34966705-C-A
• MyVariant Identifiers: chr11:g.34988252C>A (hg19) ; chr11:g.34966705C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966705C>A , CM000673.2:g.34966705C>A	GRCh38
NC_000011.9:g.34988252C>A , CM000673.1:g.34988252C>A	GRCh37
NC_000011.8:g.34944828C>A	NCBI36
NG_013368.1:g.55576C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.527C>A	ENSP00000389404.3:p.Ala176Asp
ENST00000227868.9:c.707C>A MANE Select	ENSP00000227868.4:p.Ala236Asp
ENST00000227868.8:c.707C>A	ENSP00000227868.4:p.Ala236Asp
ENST00000430469.6:c.343-17865C>A	ENSP00000415695.2:n.343-17865C>A
ENST00000448838.7:c.662C>A	ENSP00000389404.2:p.Ala221Asp
NM_001135024.1:c.662C>A	NP_001128496.1:p.Ala221Asp
NM_001166158.1:c.343-17865C>A	NP_001159630.1:n.343-17865C>A
NM_003477.2:c.707C>A	NP_003468.2:p.Ala236Asp
XM_011520390.1:c.527C>A	XP_011518692.1:p.Ala176Asp
NM_003477.3:c.707C>A MANE Select	NP_003468.2:p.Ala236Asp
NM_001135024.2:c.527C>A	NP_001128496.2:p.Ala176Asp
NM_001166158.2:c.343-17865C>A	NP_001159630.1:n.343-17865C>A