Canonical Allele Identifier: CA380123547

Gene: PDHX APIP

Linked Data

• gnomAD v4: 11-34916457-T-A
• MyVariant Identifiers: chr11:g.34938004T>A (hg19) ; chr11:g.34916457T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916457T>A , CM000673.2:g.34916457T>A	GRCh38
NC_000011.9:g.34938004T>A , CM000673.1:g.34938004T>A	GRCh37
NC_000011.8:g.34894580T>A	NCBI36
NG_013368.1:g.5328T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-50T>A (PDHX)	ENSP00000389404.3:n.-50T>A
ENST00000395787.3:c.-173A>T (APIP)	ENSP00000379133.3:n.-173A>T
ENST00000448838.7:c.86T>A (PDHX)	ENSP00000389404.2:p.Ile29Lys
ENST00000533550.5:c.-21+519T>A (PDHX)	ENSP00000431281.1:n.-21+519T>A
NM_001135024.1:c.86T>A (PDHX)	NP_001128496.1:p.Ile29Lys
NM_001166158.1:c.-199T>A (PDHX)	NP_001159630.1:n.-199T>A
NM_003477.2:c.-199T>A (PDHX)	NP_003468.2:n.-199T>A
XM_011520390.1:c.-21+519T>A (PDHX)	XP_011518692.1:n.-21+519T>A
NM_001135024.2:c.-50T>A (PDHX)	NP_001128496.2:n.-50T>A