Canonical Allele Identifier: CA1963455883
Gene: PDHX HGNC NCBI
APIP HGNC NCBI

Linked Data

dbSNP Id: rs1389668980
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916443C>A , CM000673.2:g.34916443C>A GRCh38
NC_000011.9:g.34937990C>A , CM000673.1:g.34937990C>A GRCh37
NC_000011.8:g.34894566C>A NCBI36
NG_013368.1:g.5314C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-64C>A (PDHX) ENSP00000389404.3:n.-64C>A
ENST00000395787.3:c.-159G>T (APIP) ENSP00000379133.3:n.-159G>T
ENST00000448838.7:c.72C>A (PDHX) ENSP00000389404.2:p.Ala24=
ENST00000533550.5:c.-21+505C>A (PDHX) ENSP00000431281.1:n.-21+505C>A
NM_001135024.1:c.72C>A (PDHX) NP_001128496.1:p.Ala24=
NM_001166158.1:c.-213C>A (PDHX) NP_001159630.1:n.-213C>A
NM_003477.2:c.-213C>A (PDHX) NP_003468.2:n.-213C>A
XM_011520390.1:c.-21+505C>A (PDHX) XP_011518692.1:n.-21+505C>A
NM_001135024.2:c.-64C>A (PDHX) NP_001128496.2:n.-64C>A
Search 100 bp 5'
Search 100 bp 3'