Canonical Allele Identifier: CA380123511

Gene: PDHX APIP

Linked Data

• gnomAD v4: 11-34916439-A-G
• MyVariant Identifiers: chr11:g.34937986A>G (hg19) ; chr11:g.34916439A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916439A>G , CM000673.2:g.34916439A>G	GRCh38
NC_000011.9:g.34937986A>G , CM000673.1:g.34937986A>G	GRCh37
NC_000011.8:g.34894562A>G	NCBI36
NG_013368.1:g.5310A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-68A>G (PDHX)	ENSP00000389404.3:n.-68A>G
ENST00000395787.3:c.-155T>C (APIP)	ENSP00000379133.3:n.-155T>C
ENST00000448838.7:c.68A>G (PDHX)	ENSP00000389404.2:p.Lys23Arg
ENST00000533550.5:c.-21+501A>G (PDHX)	ENSP00000431281.1:n.-21+501A>G
NM_001135024.1:c.68A>G (PDHX)	NP_001128496.1:p.Lys23Arg
NM_001166158.1:c.-217A>G (PDHX)	NP_001159630.1:n.-217A>G
NM_003477.2:c.-217A>G (PDHX)	NP_003468.2:n.-217A>G
XM_011520390.1:c.-21+501A>G (PDHX)	XP_011518692.1:n.-21+501A>G
NM_001135024.2:c.-68A>G (PDHX)	NP_001128496.2:n.-68A>G