Canonical Allele Identifier: CA2613091412

Gene: PDHX APIP

Linked Data

• gnomAD v4: 11-34916467-C-G

Genomic Alleles

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

Transcript Alleles

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