Canonical Allele Identifier: CA380123490

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs1565143860
• gnomAD v2: 11-34937974-C-T
• gnomAD v3: 11-34916427-C-T
• gnomAD v4: 11-34916427-C-T
• MyVariant Identifiers: chr11:g.34937974C>T (hg19) ; chr11:g.34937974_34937975delinsTG (hg19) ; chr11:g.34916427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916427C>T , CM000673.2:g.34916427C>T	GRCh38
NC_000011.9:g.34937974C>T , CM000673.1:g.34937974C>T	GRCh37
NC_000011.8:g.34894550C>T	NCBI36
NG_013368.1:g.5298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-80C>T (PDHX)	ENSP00000389404.3:n.-80C>T
ENST00000395787.3:c.-143G>A (APIP)	ENSP00000379133.3:n.-143G>A
ENST00000448838.7:c.56C>T (PDHX)	ENSP00000389404.2:p.Pro19Leu
ENST00000533550.5:c.-21+489C>T (PDHX)	ENSP00000431281.1:n.-21+489C>T
NM_001135024.1:c.56C>T (PDHX)	NP_001128496.1:p.Pro19Leu
NM_001166158.1:c.-229C>T (PDHX)	NP_001159630.1:n.-229C>T
NM_003477.2:c.-229C>T (PDHX)	NP_003468.2:n.-229C>T
XM_011520390.1:c.-21+489C>T (PDHX)	XP_011518692.1:n.-21+489C>T