Canonical Allele Identifier: CA2613091541
Gene: PDHX HGNC NCBI

Linked Data

gnomAD v4: 11-34916507-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916507G>A , CM000673.2:g.34916507G>A GRCh38
NC_000011.9:g.34938054G>A , CM000673.1:g.34938054G>A GRCh37
NC_000011.8:g.34894630G>A NCBI36
NG_013368.1:g.5378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-21+21G>A ENSP00000389404.3:n.-21+21G>A
ENST00000448838.7:c.115+21G>A ENSP00000389404.2:n.115+21G>A
ENST00000533550.5:c.-21+569G>A ENSP00000431281.1:n.-21+569G>A
NM_001135024.1:c.115+21G>A NP_001128496.1:n.115+21G>A
NM_001166158.1:c.-149G>A NP_001159630.1:n.-149G>A
NM_003477.2:c.-149G>A NP_003468.2:n.-149G>A
XM_011520390.1:c.-21+569G>A XP_011518692.1:n.-21+569G>A
NM_001135024.2:c.-21+21G>A NP_001128496.2:n.-21+21G>A
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