Canonical Allele Identifier: CA598864096

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs1207510316
• gnomAD v2: 11-34938020-T-C
• gnomAD v4: 11-34916473-T-C
• MyVariant Identifiers: chr11:g.34938020T>C (hg19) ; chr11:g.34916473T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916473T>C , CM000673.2:g.34916473T>C	GRCh38
NC_000011.9:g.34938020T>C , CM000673.1:g.34938020T>C	GRCh37
NC_000011.8:g.34894596T>C	NCBI36
NG_013368.1:g.5344T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-34T>C (PDHX)	ENSP00000389404.3:n.-34T>C
ENST00000395787.3:c.-189A>G (APIP)	ENSP00000379133.3:n.-189A>G
ENST00000448838.7:c.102T>C (PDHX)	ENSP00000389404.2:p.Pro34=
ENST00000533550.5:c.-21+535T>C (PDHX)	ENSP00000431281.1:n.-21+535T>C
NM_001135024.1:c.102T>C (PDHX)	NP_001128496.1:p.Pro34=
NM_001166158.1:c.-183T>C (PDHX)	NP_001159630.1:n.-183T>C
NM_003477.2:c.-183T>C (PDHX)	NP_003468.2:n.-183T>C
XM_011520390.1:c.-21+535T>C (PDHX)	XP_011518692.1:n.-21+535T>C
NM_001135024.2:c.-34T>C (PDHX)	NP_001128496.2:n.-34T>C