Canonical Allele Identifier: CA2613094170

Gene: PDHX

Linked Data

• gnomAD v4: 11-34984520-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34984520C>G , CM000673.2:g.34984520C>G	GRCh38
NC_000011.9:g.35006067C>G , CM000673.1:g.35006067C>G	GRCh37
NC_000011.8:g.34962643C>G	NCBI36
NG_013368.1:g.73391C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.844-50C>G	ENSP00000389404.3:n.844-50C>G
ENST00000227868.9:c.1024-50C>G MANE Select	ENSP00000227868.4:n.1024-50C>G
ENST00000227868.8:c.1024-50C>G	ENSP00000227868.4:n.1024-50C>G
ENST00000430469.6:c.343-50C>G	ENSP00000415695.2:n.343-50C>G
ENST00000448838.7:c.979-50C>G	ENSP00000389404.2:n.979-50C>G
ENST00000526309.1:c.87-50C>G
ENST00000532159.1:n.249-50C>G
NM_001135024.1:c.979-50C>G	NP_001128496.1:n.979-50C>G
NM_001166158.1:c.343-50C>G	NP_001159630.1:n.343-50C>G
NM_003477.2:c.1024-50C>G	NP_003468.2:n.1024-50C>G
XM_011520390.1:c.844-50C>G	XP_011518692.1:n.844-50C>G
NM_003477.3:c.1024-50C>G MANE Select	NP_003468.2:n.1024-50C>G
NM_001135024.2:c.844-50C>G	NP_001128496.2:n.844-50C>G
NM_001166158.2:c.343-50C>G	NP_001159630.1:n.343-50C>G