Canonical Allele Identifier: CA936808406

Gene: PDHX APIP

Linked Data

• gnomAD v3: 11-34916452-T-G
• gnomAD v4: 11-34916452-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916452T>G , CM000673.2:g.34916452T>G	GRCh38
NC_000011.9:g.34937999T>G , CM000673.1:g.34937999T>G	GRCh37
NC_000011.8:g.34894575T>G	NCBI36
NG_013368.1:g.5323T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-55T>G (PDHX)	ENSP00000389404.3:n.-55T>G
ENST00000395787.3:c.-168A>C (APIP)	ENSP00000379133.3:n.-168A>C
ENST00000448838.7:c.81T>G (PDHX)	ENSP00000389404.2:p.Ala27=
ENST00000533550.5:c.-21+514T>G (PDHX)	ENSP00000431281.1:n.-21+514T>G
NM_001135024.1:c.81T>G (PDHX)	NP_001128496.1:p.Ala27=
NM_001166158.1:c.-204T>G (PDHX)	NP_001159630.1:n.-204T>G
NM_003477.2:c.-204T>G (PDHX)	NP_003468.2:n.-204T>G
XM_011520390.1:c.-21+514T>G (PDHX)	XP_011518692.1:n.-21+514T>G
NM_001135024.2:c.-55T>G (PDHX)	NP_001128496.2:n.-55T>G