Canonical Allele Identifier: CA5945993

Gene: PDHX

Linked Data

• ClinVar Variation Id: 1432545
• ClinVar RCV Id: RCV001982044
• dbSNP Id: rs183059121
• ExAC: 11:34988339 C / G
• gnomAD v2: 11-34988339-C-G
• gnomAD v3: 11-34966792-C-G
• gnomAD v4: 11-34966792-C-G
• MyVariant Identifiers: chr11:g.34988339C>G (hg19) ; chr11:g.34966792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966792C>G , CM000673.2:g.34966792C>G	GRCh38
NC_000011.9:g.34988339C>G , CM000673.1:g.34988339C>G	GRCh37
NC_000011.8:g.34944915C>G	NCBI36
NG_013368.1:g.55663C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.614C>G	ENSP00000389404.3:p.Thr205Ser
ENST00000227868.9:c.794C>G MANE Select	ENSP00000227868.4:p.Thr265Ser
ENST00000227868.8:c.794C>G	ENSP00000227868.4:p.Thr265Ser
ENST00000430469.6:c.343-17778C>G	ENSP00000415695.2:n.343-17778C>G
ENST00000448838.7:c.749C>G	ENSP00000389404.2:p.Thr250Ser
NM_001135024.1:c.749C>G	NP_001128496.1:p.Thr250Ser
NM_001166158.1:c.343-17778C>G	NP_001159630.1:n.343-17778C>G
NM_003477.2:c.794C>G	NP_003468.2:p.Thr265Ser
XM_011520390.1:c.614C>G	XP_011518692.1:p.Thr205Ser
NM_003477.3:c.794C>G MANE Select	NP_003468.2:p.Thr265Ser
NM_001135024.2:c.614C>G	NP_001128496.2:p.Thr205Ser
NM_001166158.2:c.343-17778C>G	NP_001159630.1:n.343-17778C>G