Canonical Allele Identifier: CA2574798082
Gene: PDHX HGNC NCBI
APIP HGNC NCBI

Linked Data

gnomAD v4: 11-34916446-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916446G>A , CM000673.2:g.34916446G>A GRCh38
NC_000011.9:g.34937993G>A , CM000673.1:g.34937993G>A GRCh37
NC_000011.8:g.34894569G>A NCBI36
NG_013368.1:g.5317G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-61G>A (PDHX) ENSP00000389404.3:n.-61G>A
ENST00000395787.3:c.-162C>T (APIP) ENSP00000379133.3:n.-162C>T
ENST00000448838.7:c.75G>A (PDHX) ENSP00000389404.2:p.Pro25=
ENST00000533550.5:c.-21+508G>A (PDHX) ENSP00000431281.1:n.-21+508G>A
NM_001135024.1:c.75G>A (PDHX) NP_001128496.1:p.Pro25=
NM_001166158.1:c.-210G>A (PDHX) NP_001159630.1:n.-210G>A
NM_003477.2:c.-210G>A (PDHX) NP_003468.2:n.-210G>A
XM_011520390.1:c.-21+508G>A (PDHX) XP_011518692.1:n.-21+508G>A
NM_001135024.2:c.-61G>A (PDHX) NP_001128496.2:n.-61G>A
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