Canonical Allele Identifier: CA5945661

Gene: PDHX APIP

Linked Data

• ClinVar Variation Id: 304451
• ClinVar RCV Id: RCV000263590 ; RCV001672447
• dbSNP Id: rs2956111
• ExAC: 11:34937931 G / A
• gnomAD v2: 11-34937931-G-A
• gnomAD v3: 11-34916384-G-A
• gnomAD v4: 11-34916384-G-A
• MyVariant Identifiers: chr11:g.34937931G>A (hg19) ; chr11:g.34916384G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916384G>A , CM000673.2:g.34916384G>A	GRCh38
NC_000011.9:g.34937931G>A , CM000673.1:g.34937931G>A	GRCh37
NC_000011.8:g.34894507G>A	NCBI36
NG_013368.1:g.5255G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-123G>A (PDHX)	ENSP00000389404.3:n.-123G>A
ENST00000395787.3:c.-100C>T (APIP)	ENSP00000379133.3:n.-100C>T
ENST00000448838.7:c.13G>A (PDHX)	ENSP00000389404.2:p.Gly5Ser
ENST00000533550.5:c.-21+446G>A (PDHX)	ENSP00000431281.1:n.-21+446G>A
NM_001135024.1:c.13G>A (PDHX)	NP_001128496.1:p.Gly5Ser
NM_001166158.1:c.-272G>A (PDHX)	NP_001159630.1:n.-272G>A
NM_003477.2:c.-272G>A (PDHX)	NP_003468.2:n.-272G>A
NM_015957.3:c.-100C>T (APIP)	NP_057041.2:n.-100C>T
XM_011520390.1:c.-21+446G>A (PDHX)	XP_011518692.1:n.-21+446G>A
XM_011520154.3:c.-144C>T (APIP)	XP_011518456.1:n.-144C>T