Canonical Allele Identifier: CA380120692

Gene: PDHX

Linked Data

• MyVariant Identifiers: chr11:g.34988297C>A (hg19) ; chr11:g.34966750C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966750C>A , CM000673.2:g.34966750C>A	GRCh38
NC_000011.9:g.34988297C>A , CM000673.1:g.34988297C>A	GRCh37
NC_000011.8:g.34944873C>A	NCBI36
NG_013368.1:g.55621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.572C>A	ENSP00000389404.3:p.Ala191Asp
ENST00000227868.9:c.752C>A MANE Select	ENSP00000227868.4:p.Ala251Asp
ENST00000227868.8:c.752C>A	ENSP00000227868.4:p.Ala251Asp
ENST00000430469.6:c.343-17820C>A	ENSP00000415695.2:n.343-17820C>A
ENST00000448838.7:c.707C>A	ENSP00000389404.2:p.Ala236Asp
NM_001135024.1:c.707C>A	NP_001128496.1:p.Ala236Asp
NM_001166158.1:c.343-17820C>A	NP_001159630.1:n.343-17820C>A
NM_003477.2:c.752C>A	NP_003468.2:p.Ala251Asp
XM_011520390.1:c.572C>A	XP_011518692.1:p.Ala191Asp
NM_003477.3:c.752C>A MANE Select	NP_003468.2:p.Ala251Asp
NM_001135024.2:c.572C>A	NP_001128496.2:p.Ala191Asp
NM_001166158.2:c.343-17820C>A	NP_001159630.1:n.343-17820C>A