Canonical Allele Identifier: CA2613091857
Gene: PDHX HGNC NCBI

Linked Data

gnomAD v4: 11-34916601-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916601C>A , CM000673.2:g.34916601C>A GRCh38
NC_000011.9:g.34938148C>A , CM000673.1:g.34938148C>A GRCh37
NC_000011.8:g.34894724C>A NCBI36
NG_013368.1:g.5472C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000448838.8:c.-21+115C>A ENSP00000389404.3:n.-21+115C>A
ENST00000227868.8:c.-55C>A ENSP00000227868.4:n.-55C>A
ENST00000448838.7:c.115+115C>A ENSP00000389404.2:n.115+115C>A
ENST00000533550.5:c.-21+663C>A ENSP00000431281.1:n.-21+663C>A
NM_001135024.1:c.115+115C>A NP_001128496.1:n.115+115C>A
NM_001166158.1:c.-55C>A NP_001159630.1:n.-55C>A
NM_003477.2:c.-55C>A NP_003468.2:n.-55C>A
XM_011520390.1:c.-21+663C>A XP_011518692.1:n.-21+663C>A
NM_001135024.2:c.-21+115C>A NP_001128496.2:n.-21+115C>A
Search 100 bp 5'
Search 100 bp 3'