Canonical Allele Identifier: CA473615545
Gene: PDHX HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.34938358T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.34916811T>C , CM000673.2:g.34916811T>C GRCh38
NC_000011.9:g.34938358T>C , CM000673.1:g.34938358T>C GRCh37
NC_000011.8:g.34894934T>C NCBI36
NG_013368.1:g.5682T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000448838.8:c.-21+325T>C ENSP00000389404.3:n.-21+325T>C
ENST00000227868.9:c.156T>C MANE Select ENSP00000227868.4:p.Leu52=
ENST00000227868.8:c.156T>C ENSP00000227868.4:p.Leu52=
ENST00000430469.6:c.156T>C ENSP00000415695.2:p.Leu52=
ENST00000448838.7:c.115+325T>C ENSP00000389404.2:n.115+325T>C
ENST00000533262.1:c.156T>C ENSP00000432277.1:p.Leu52=
ENST00000533550.5:c.-21+873T>C ENSP00000431281.1:n.-21+873T>C
NM_001135024.1:c.115+325T>C NP_001128496.1:n.115+325T>C
NM_001166158.1:c.156T>C NP_001159630.1:p.Leu52=
NM_003477.2:c.156T>C NP_003468.2:p.Leu52=
XM_011520390.1:c.-21+873T>C XP_011518692.1:n.-21+873T>C
NM_003477.3:c.156T>C MANE Select NP_003468.2:p.Leu52=
NM_001135024.2:c.-21+325T>C NP_001128496.2:n.-21+325T>C
NM_001166158.2:c.156T>C NP_001159630.1:p.Leu52=