Canonical Allele Identifier: CA380123517

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs1479298201
• gnomAD v4: 11-34916441-G-A
• MyVariant Identifiers: chr11:g.34937988G>A (hg19) ; chr11:g.34916441G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916441G>A , CM000673.2:g.34916441G>A	GRCh38
NC_000011.9:g.34937988G>A , CM000673.1:g.34937988G>A	GRCh37
NC_000011.8:g.34894564G>A	NCBI36
NG_013368.1:g.5312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-66G>A (PDHX)	ENSP00000389404.3:n.-66G>A
ENST00000395787.3:c.-157C>T (APIP)	ENSP00000379133.3:n.-157C>T
ENST00000448838.7:c.70G>A (PDHX)	ENSP00000389404.2:p.Ala24Thr
ENST00000533550.5:c.-21+503G>A (PDHX)	ENSP00000431281.1:n.-21+503G>A
NM_001135024.1:c.70G>A (PDHX)	NP_001128496.1:p.Ala24Thr
NM_001166158.1:c.-215G>A (PDHX)	NP_001159630.1:n.-215G>A
NM_003477.2:c.-215G>A (PDHX)	NP_003468.2:n.-215G>A
XM_011520390.1:c.-21+503G>A (PDHX)	XP_011518692.1:n.-21+503G>A
NM_001135024.2:c.-66G>A (PDHX)	NP_001128496.2:n.-66G>A