Canonical Allele Identifier: CA380123890

Gene: PDHX

Linked Data

• dbSNP Id: rs754249799
• MyVariant Identifiers: chr11:g.34938284C>G (hg19) ; chr11:g.34916737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916737C>G , CM000673.2:g.34916737C>G	GRCh38
NC_000011.9:g.34938284C>G , CM000673.1:g.34938284C>G	GRCh37
NC_000011.8:g.34894860C>G	NCBI36
NG_013368.1:g.5608C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+251C>G	ENSP00000389404.3:n.-21+251C>G
ENST00000227868.9:c.82C>G MANE Select	ENSP00000227868.4:p.Leu28Val
ENST00000227868.8:c.82C>G	ENSP00000227868.4:p.Leu28Val
ENST00000430469.6:c.82C>G	ENSP00000415695.2:p.Leu28Val
ENST00000448838.7:c.115+251C>G	ENSP00000389404.2:n.115+251C>G
ENST00000533262.1:c.82C>G	ENSP00000432277.1:p.Leu28Val
ENST00000533550.5:c.-21+799C>G	ENSP00000431281.1:n.-21+799C>G
NM_001135024.1:c.115+251C>G	NP_001128496.1:n.115+251C>G
NM_001166158.1:c.82C>G	NP_001159630.1:p.Leu28Val
NM_003477.2:c.82C>G	NP_003468.2:p.Leu28Val
XM_011520390.1:c.-21+799C>G	XP_011518692.1:n.-21+799C>G
NM_003477.3:c.82C>G MANE Select	NP_003468.2:p.Leu28Val
NM_001135024.2:c.-21+251C>G	NP_001128496.2:n.-21+251C>G
NM_001166158.2:c.82C>G	NP_001159630.1:p.Leu28Val