Canonical Allele Identifier: CA5945963

Gene: PDHX

Linked Data

• dbSNP Id: rs777915154
• ExAC: 11:34988244 A / G
• gnomAD v2: 11-34988244-A-G
• gnomAD v3: 11-34966697-A-G
• gnomAD v4: 11-34966697-A-G
• MyVariant Identifiers: chr11:g.34988244A>G (hg19) ; chr11:g.34966697A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966697A>G , CM000673.2:g.34966697A>G	GRCh38
NC_000011.9:g.34988244A>G , CM000673.1:g.34988244A>G	GRCh37
NC_000011.8:g.34944820A>G	NCBI36
NG_013368.1:g.55568A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.519A>G	ENSP00000389404.3:p.Pro173=
ENST00000227868.9:c.699A>G MANE Select	ENSP00000227868.4:p.Pro233=
ENST00000227868.8:c.699A>G	ENSP00000227868.4:p.Pro233=
ENST00000430469.6:c.343-17873A>G	ENSP00000415695.2:n.343-17873A>G
ENST00000448838.7:c.654A>G	ENSP00000389404.2:p.Pro218=
NM_001135024.1:c.654A>G	NP_001128496.1:p.Pro218=
NM_001166158.1:c.343-17873A>G	NP_001159630.1:n.343-17873A>G
NM_003477.2:c.699A>G	NP_003468.2:p.Pro233=
XM_011520390.1:c.519A>G	XP_011518692.1:p.Pro173=
NM_003477.3:c.699A>G MANE Select	NP_003468.2:p.Pro233=
NM_001135024.2:c.519A>G	NP_001128496.2:p.Pro173=
NM_001166158.2:c.343-17873A>G	NP_001159630.1:n.343-17873A>G