Canonical Allele Identifier: CA380123539

Gene: PDHX APIP

Linked Data

• dbSNP Id: rs1420227821
• gnomAD v2: 11-34938000-G-T
• gnomAD v3: 11-34916453-G-T
• gnomAD v4: 11-34916453-G-T
• MyVariant Identifiers: chr11:g.34938000G>T (hg19) ; chr11:g.34916453G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916453G>T , CM000673.2:g.34916453G>T	GRCh38
NC_000011.9:g.34938000G>T , CM000673.1:g.34938000G>T	GRCh37
NC_000011.8:g.34894576G>T	NCBI36
NG_013368.1:g.5324G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-54G>T (PDHX)	ENSP00000389404.3:n.-54G>T
ENST00000395787.3:c.-169C>A (APIP)	ENSP00000379133.3:n.-169C>A
ENST00000448838.7:c.82G>T (PDHX)	ENSP00000389404.2:p.Glu28Ter
ENST00000533550.5:c.-21+515G>T (PDHX)	ENSP00000431281.1:n.-21+515G>T
NM_001135024.1:c.82G>T (PDHX)	NP_001128496.1:p.Glu28Ter
NM_001166158.1:c.-203G>T (PDHX)	NP_001159630.1:n.-203G>T
NM_003477.2:c.-203G>T (PDHX)	NP_003468.2:n.-203G>T
XM_011520390.1:c.-21+515G>T (PDHX)	XP_011518692.1:n.-21+515G>T
NM_001135024.2:c.-54G>T (PDHX)	NP_001128496.2:n.-54G>T