Canonical Allele Identifier: CA473615515

Gene: PDHX

Linked Data

• MyVariant Identifiers: chr11:g.34988280G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34966733G>C , CM000673.2:g.34966733G>C	GRCh38
NC_000011.9:g.34988280G>C , CM000673.1:g.34988280G>C	GRCh37
NC_000011.8:g.34944856G>C	NCBI36
NG_013368.1:g.55604G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.555G>C	ENSP00000389404.3:p.Ser185=
ENST00000227868.9:c.735G>C MANE Select	ENSP00000227868.4:p.Ser245=
ENST00000227868.8:c.735G>C	ENSP00000227868.4:p.Ser245=
ENST00000430469.6:c.343-17837G>C	ENSP00000415695.2:n.343-17837G>C
ENST00000448838.7:c.690G>C	ENSP00000389404.2:p.Ser230=
NM_001135024.1:c.690G>C	NP_001128496.1:p.Ser230=
NM_001166158.1:c.343-17837G>C	NP_001159630.1:n.343-17837G>C
NM_003477.2:c.735G>C	NP_003468.2:p.Ser245=
XM_011520390.1:c.555G>C	XP_011518692.1:p.Ser185=
NM_003477.3:c.735G>C MANE Select	NP_003468.2:p.Ser245=
NM_001135024.2:c.555G>C	NP_001128496.2:p.Ser185=
NM_001166158.2:c.343-17837G>C	NP_001159630.1:n.343-17837G>C