Canonical Allele Identifier: CA380120680

Gene: PDHX

Linked Data

• dbSNP Id: rs1855140474
• MyVariant Identifiers: chr11:g.34988290G>C (hg19) ; chr11:g.34966743G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966743G>C , CM000673.2:g.34966743G>C	GRCh38
NC_000011.9:g.34988290G>C , CM000673.1:g.34988290G>C	GRCh37
NC_000011.8:g.34944866G>C	NCBI36
NG_013368.1:g.55614G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.565G>C	ENSP00000389404.3:p.Ala189Pro
ENST00000227868.9:c.745G>C MANE Select	ENSP00000227868.4:p.Ala249Pro
ENST00000227868.8:c.745G>C	ENSP00000227868.4:p.Ala249Pro
ENST00000430469.6:c.343-17827G>C	ENSP00000415695.2:n.343-17827G>C
ENST00000448838.7:c.700G>C	ENSP00000389404.2:p.Ala234Pro
NM_001135024.1:c.700G>C	NP_001128496.1:p.Ala234Pro
NM_001166158.1:c.343-17827G>C	NP_001159630.1:n.343-17827G>C
NM_003477.2:c.745G>C	NP_003468.2:p.Ala249Pro
XM_011520390.1:c.565G>C	XP_011518692.1:p.Ala189Pro
NM_003477.3:c.745G>C MANE Select	NP_003468.2:p.Ala249Pro
NM_001135024.2:c.565G>C	NP_001128496.2:p.Ala189Pro
NM_001166158.2:c.343-17827G>C	NP_001159630.1:n.343-17827G>C