Canonical Allele Identifier: CA292745

Gene: PDHX

Linked Data

• ClinVar Variation Id: 138661
• ClinVar RCV Id: RCV000127415 ; RCV000422923
• dbSNP Id: rs61752925
• ExAC: 11:34981990 G / A
• gnomAD v2: 11-34981990-G-A
• gnomAD v3: 11-34960443-G-A
• gnomAD v4: 11-34960443-G-A
• COSMIC: COSM283932
• MyVariant Identifiers: chr11:g.34981990G>A (hg19) ; chr11:g.34960443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34960443G>A , CM000673.2:g.34960443G>A	GRCh38
NC_000011.9:g.34981990G>A , CM000673.1:g.34981990G>A	GRCh37
NC_000011.8:g.34938566G>A	NCBI36
NG_013368.1:g.49314G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.386G>A	ENSP00000389404.3:p.Arg129His
ENST00000227868.9:c.566G>A MANE Select	ENSP00000227868.4:p.Arg189His
ENST00000227868.8:c.566G>A	ENSP00000227868.4:p.Arg189His
ENST00000430469.6:c.342+12837G>A	ENSP00000415695.2:n.342+12837G>A
ENST00000448838.7:c.521G>A	ENSP00000389404.2:p.Arg174His
ENST00000533262.1:c.485G>A	ENSP00000432277.1:p.Arg162His
ENST00000533550.5:c.386G>A	ENSP00000431281.1:p.Arg129His
NM_001135024.1:c.521G>A	NP_001128496.1:p.Arg174His
NM_001166158.1:c.342+12837G>A	NP_001159630.1:n.342+12837G>A
NM_003477.2:c.566G>A	NP_003468.2:p.Arg189His
XM_011520390.1:c.386G>A	XP_011518692.1:p.Arg129His
NM_003477.3:c.566G>A MANE Select	NP_003468.2:p.Arg189His
NM_001135024.2:c.386G>A	NP_001128496.2:p.Arg129His
NM_001166158.2:c.342+12837G>A	NP_001159630.1:n.342+12837G>A