Canonical Allele Identifier: CA2613094169

Gene: PDHX

Linked Data

• gnomAD v4: 11-34984516-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34984516C>T , CM000673.2:g.34984516C>T	GRCh38
NC_000011.9:g.35006063C>T , CM000673.1:g.35006063C>T	GRCh37
NC_000011.8:g.34962639C>T	NCBI36
NG_013368.1:g.73387C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.844-54C>T	ENSP00000389404.3:n.844-54C>T
ENST00000227868.9:c.1024-54C>T MANE Select	ENSP00000227868.4:n.1024-54C>T
ENST00000227868.8:c.1024-54C>T	ENSP00000227868.4:n.1024-54C>T
ENST00000430469.6:c.343-54C>T	ENSP00000415695.2:n.343-54C>T
ENST00000448838.7:c.979-54C>T	ENSP00000389404.2:n.979-54C>T
ENST00000526309.1:c.87-54C>T
ENST00000532159.1:n.249-54C>T
NM_001135024.1:c.979-54C>T	NP_001128496.1:n.979-54C>T
NM_001166158.1:c.343-54C>T	NP_001159630.1:n.343-54C>T
NM_003477.2:c.1024-54C>T	NP_003468.2:n.1024-54C>T
XM_011520390.1:c.844-54C>T	XP_011518692.1:n.844-54C>T
NM_003477.3:c.1024-54C>T MANE Select	NP_003468.2:n.1024-54C>T
NM_001135024.2:c.844-54C>T	NP_001128496.2:n.844-54C>T
NM_001166158.2:c.343-54C>T	NP_001159630.1:n.343-54C>T