Canonical Allele Identifier: CA220469390

Gene: PDHX

Linked Data

• dbSNP Id: rs946380656
• gnomAD v2: 11-34999572-T-G
• gnomAD v3: 11-34978025-T-G
• gnomAD v4: 11-34978025-T-G
• MyVariant Identifiers: chr11:g.34999572T>G (hg19) ; chr11:g.34978025T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34978025T>G , CM000673.2:g.34978025T>G	GRCh38
NC_000011.9:g.34999572T>G , CM000673.1:g.34999572T>G	GRCh37
NC_000011.8:g.34956148T>G	NCBI36
NG_013368.1:g.66896T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.785-99T>G	ENSP00000389404.3:n.785-99T>G
ENST00000227868.9:c.965-99T>G MANE Select	ENSP00000227868.4:n.965-99T>G
ENST00000227868.8:c.965-99T>G	ENSP00000227868.4:n.965-99T>G
ENST00000430469.6:c.343-6545T>G	ENSP00000415695.2:n.343-6545T>G
ENST00000448838.7:c.920-99T>G	ENSP00000389404.2:n.920-99T>G
ENST00000526309.1:c.28-99T>G
ENST00000532159.1:n.91T>G
NM_001135024.1:c.920-99T>G	NP_001128496.1:n.920-99T>G
NM_001166158.1:c.343-6545T>G	NP_001159630.1:n.343-6545T>G
NM_003477.2:c.965-99T>G	NP_003468.2:n.965-99T>G
XM_011520390.1:c.785-99T>G	XP_011518692.1:n.785-99T>G
NM_003477.3:c.965-99T>G MANE Select	NP_003468.2:n.965-99T>G
NM_001135024.2:c.785-99T>G	NP_001128496.2:n.785-99T>G
NM_001166158.2:c.343-6545T>G	NP_001159630.1:n.343-6545T>G