Canonical Allele Identifier: CA16042850
Gene: PDHX HGNC NCBI

Linked Data

ClinVar Variation Id: 373059
ClinVar RCV Id: RCV000413565 RCV001782890
dbSNP Id: rs1057518180
MyVariant Identifiers: chr11:g.34988338dupA (hg19) chr11:g.34966791dupA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34966791dup , CM000673.2:g.34966791dup GRCh38
NC_000011.9:g.34988338dup , CM000673.1:g.34988338dup GRCh37
NC_000011.8:g.34944914dup NCBI36
NG_013368.1:g.55662dup

Transcript Alleles

HGVS Amino-acid change
ENST00000448838.8:c.613dup ENSP00000389404.3:p.Thr205AsnfsTer13
ENST00000227868.9:c.793dup MANE Select ENSP00000227868.4:p.Thr265AsnfsTer13
ENST00000227868.8:c.793dup ENSP00000227868.4:p.Thr265AsnfsTer13
ENST00000430469.6:c.343-17779dup ENSP00000415695.2:n.343-17779dup
ENST00000448838.7:c.748dup ENSP00000389404.2:p.Thr250AsnfsTer13
NM_001135024.1:c.748dup NP_001128496.1:p.Thr250AsnfsTer13
NM_001166158.1:c.343-17779dup NP_001159630.1:n.343-17779dup
NM_003477.2:c.793dup NP_003468.2:p.Thr265AsnfsTer13
XM_011520390.1:c.613dup XP_011518692.1:p.Thr205AsnfsTer13
NM_003477.3:c.793dup MANE Select NP_003468.2:p.Thr265AsnfsTer13
NM_001135024.2:c.613dup NP_001128496.2:p.Thr205AsnfsTer13
NM_001166158.2:c.343-17779dup NP_001159630.1:n.343-17779dup
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