Canonical Allele Identifier: CA1963422128

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs1853703055
• gnomAD v4: 11-34916467-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916467C>T , CM000673.2:g.34916467C>T	GRCh38
NC_000011.9:g.34938014C>T , CM000673.1:g.34938014C>T	GRCh37
NC_000011.8:g.34894590C>T	NCBI36
NG_013368.1:g.5338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-40C>T (PDHX)	ENSP00000389404.3:n.-40C>T
ENST00000395787.3:c.-183G>A (APIP)	ENSP00000379133.3:n.-183G>A
ENST00000448838.7:c.96C>T (PDHX)	ENSP00000389404.2:p.Gly32=
ENST00000533550.5:c.-21+529C>T (PDHX)	ENSP00000431281.1:n.-21+529C>T
NM_001135024.1:c.96C>T (PDHX)	NP_001128496.1:p.Gly32=
NM_001166158.1:c.-189C>T (PDHX)	NP_001159630.1:n.-189C>T
NM_003477.2:c.-189C>T (PDHX)	NP_003468.2:n.-189C>T
XM_011520390.1:c.-21+529C>T (PDHX)	XP_011518692.1:n.-21+529C>T
NM_001135024.2:c.-40C>T (PDHX)	NP_001128496.2:n.-40C>T