Canonical Allele Identifier: CA380123886

Gene: PDHX

Linked Data

• ClinVar Variation Id: 2079115
• ClinVar RCV Id: RCV002995178
• dbSNP Id: rs1853723834
• MyVariant Identifiers: chr11:g.34938282G>A (hg19) ; chr11:g.34916735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916735G>A , CM000673.2:g.34916735G>A	GRCh38
NC_000011.9:g.34938282G>A , CM000673.1:g.34938282G>A	GRCh37
NC_000011.8:g.34894858G>A	NCBI36
NG_013368.1:g.5606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+249G>A	ENSP00000389404.3:n.-21+249G>A
ENST00000227868.9:c.80G>A MANE Select	ENSP00000227868.4:p.Gly27Glu
ENST00000227868.8:c.80G>A	ENSP00000227868.4:p.Gly27Glu
ENST00000430469.6:c.80G>A	ENSP00000415695.2:p.Gly27Glu
ENST00000448838.7:c.115+249G>A	ENSP00000389404.2:n.115+249G>A
ENST00000533262.1:c.80G>A	ENSP00000432277.1:p.Gly27Glu
ENST00000533550.5:c.-21+797G>A	ENSP00000431281.1:n.-21+797G>A
NM_001135024.1:c.115+249G>A	NP_001128496.1:n.115+249G>A
NM_001166158.1:c.80G>A	NP_001159630.1:p.Gly27Glu
NM_003477.2:c.80G>A	NP_003468.2:p.Gly27Glu
XM_011520390.1:c.-21+797G>A	XP_011518692.1:n.-21+797G>A
NM_003477.3:c.80G>A MANE Select	NP_003468.2:p.Gly27Glu
NM_001135024.2:c.-21+249G>A	NP_001128496.2:n.-21+249G>A
NM_001166158.2:c.80G>A	NP_001159630.1:p.Gly27Glu