Canonical Allele Identifier: CA2613091343

Gene: PDHX APIP

Linked Data

• gnomAD v4: 11-34916446-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916446G>T , CM000673.2:g.34916446G>T	GRCh38
NC_000011.9:g.34937993G>T , CM000673.1:g.34937993G>T	GRCh37
NC_000011.8:g.34894569G>T	NCBI36
NG_013368.1:g.5317G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-61G>T (PDHX)	ENSP00000389404.3:n.-61G>T
ENST00000395787.3:c.-162C>A (APIP)	ENSP00000379133.3:n.-162C>A
ENST00000448838.7:c.75G>T (PDHX)	ENSP00000389404.2:p.Pro25=
ENST00000533550.5:c.-21+508G>T (PDHX)	ENSP00000431281.1:n.-21+508G>T
NM_001135024.1:c.75G>T (PDHX)	NP_001128496.1:p.Pro25=
NM_001166158.1:c.-210G>T (PDHX)	NP_001159630.1:n.-210G>T
NM_003477.2:c.-210G>T (PDHX)	NP_003468.2:n.-210G>T
XM_011520390.1:c.-21+508G>T (PDHX)	XP_011518692.1:n.-21+508G>T
NM_001135024.2:c.-61G>T (PDHX)	NP_001128496.2:n.-61G>T