Canonical Allele Identifier: CA5945965

Gene: PDHX

Linked Data

• ClinVar Variation Id: 304471
• ClinVar RCV Id: RCV000283691
• dbSNP Id: rs772231144
• ExAC: 11:34988247 T / C
• gnomAD v2: 11-34988247-T-C
• gnomAD v4: 11-34966700-T-C
• MyVariant Identifiers: chr11:g.34988247T>C (hg19) ; chr11:g.34966700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966700T>C , CM000673.2:g.34966700T>C	GRCh38
NC_000011.9:g.34988247T>C , CM000673.1:g.34988247T>C	GRCh37
NC_000011.8:g.34944823T>C	NCBI36
NG_013368.1:g.55571T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.522T>C	ENSP00000389404.3:p.Thr174=
ENST00000227868.9:c.702T>C MANE Select	ENSP00000227868.4:p.Thr234=
ENST00000227868.8:c.702T>C	ENSP00000227868.4:p.Thr234=
ENST00000430469.6:c.343-17870T>C	ENSP00000415695.2:n.343-17870T>C
ENST00000448838.7:c.657T>C	ENSP00000389404.2:p.Thr219=
NM_001135024.1:c.657T>C	NP_001128496.1:p.Thr219=
NM_001166158.1:c.343-17870T>C	NP_001159630.1:n.343-17870T>C
NM_003477.2:c.702T>C	NP_003468.2:p.Thr234=
XM_011520390.1:c.522T>C	XP_011518692.1:p.Thr174=
NM_003477.3:c.702T>C MANE Select	NP_003468.2:p.Thr234=
NM_001135024.2:c.522T>C	NP_001128496.2:p.Thr174=
NM_001166158.2:c.343-17870T>C	NP_001159630.1:n.343-17870T>C