Canonical Allele Identifier: CA115356
Gene: PDHX HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.34966740C>T
GRCh37 chr11:g.34988287C>T
gnomAD v2:
11:34988287 C / T
gnomAD v4:
chr11-34966740-C-T
Joint Max Group AF 0.0000122 (NFE)
Exomes Max Group AF 0.00001295 (NFE)
ClinVar RCV:
RCV000002199
ClinVar Variation:
2118
dbSNP:
113309941
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34966740C>T , CM000673.2:g.34966740C>T GRCh38
NC_000011.9:g.34988287C>T , CM000673.1:g.34988287C>T GRCh37
NC_000011.8:g.34944863C>T NCBI36
NG_013368.1:g.55611C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.562C>T ENSP00000389404.3:p.Gln188Ter
ENST00000227868.9:c.742C>T MANE Select ENSP00000227868.4:p.Gln248Ter
ENST00000227868.8:c.742C>T ENSP00000227868.4:p.Gln248Ter
ENST00000430469.6:c.343-17830C>T ENSP00000415695.2:n.343-17830C>T
ENST00000448838.7:c.697C>T ENSP00000389404.2:p.Gln233Ter
NM_001135024.1:c.697C>T NP_001128496.1:p.Gln233Ter
NM_001166158.1:c.343-17830C>T NP_001159630.1:n.343-17830C>T
NM_003477.2:c.742C>T NP_003468.2:p.Gln248Ter
XM_011520390.1:c.562C>T XP_011518692.1:p.Gln188Ter
NM_003477.3:c.742C>T MANE Select NP_003468.2:p.Gln248Ter
NM_001135024.2:c.562C>T NP_001128496.2:p.Gln188Ter
NM_001166158.2:c.343-17830C>T NP_001159630.1:n.343-17830C>T
Search 100 bp 5'
Search 100 bp 3'