Canonical Allele Identifier: CA320745

Gene: PDHX

Linked Data

• ClinVar Variation Id: 214953
• ClinVar RCV Id: RCV000196329 ; RCV000293664
• dbSNP Id: rs201033364
• ExAC: 11:34938180 C / A
• gnomAD v2: 11-34938180-C-A
• gnomAD v3: 11-34916633-C-A
• gnomAD v4: 11-34916633-C-A
• MyVariant Identifiers: chr11:g.34938180C>A (hg19) ; chr11:g.34916633C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34916633C>A , CM000673.2:g.34916633C>A	GRCh38
NC_000011.9:g.34938180C>A , CM000673.1:g.34938180C>A	GRCh37
NC_000011.8:g.34894756C>A	NCBI36
NG_013368.1:g.5504C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000448838.8:c.-21+147C>A	ENSP00000389404.3:n.-21+147C>A
ENST00000227868.9:c.-23C>A MANE Select	ENSP00000227868.4:n.-23C>A
ENST00000227868.8:c.-23C>A	ENSP00000227868.4:n.-23C>A
ENST00000430469.6:c.-23C>A	ENSP00000415695.2:n.-23C>A
ENST00000448838.7:c.115+147C>A	ENSP00000389404.2:n.115+147C>A
ENST00000533550.5:c.-21+695C>A	ENSP00000431281.1:n.-21+695C>A
NM_001135024.1:c.115+147C>A	NP_001128496.1:n.115+147C>A
NM_001166158.1:c.-23C>A	NP_001159630.1:n.-23C>A
NM_003477.2:c.-23C>A	NP_003468.2:n.-23C>A
XM_011520390.1:c.-21+695C>A	XP_011518692.1:n.-21+695C>A
NM_003477.3:c.-23C>A MANE Select	NP_003468.2:n.-23C>A
NM_001135024.2:c.-21+147C>A	NP_001128496.2:n.-21+147C>A
NM_001166158.2:c.-23C>A	NP_001159630.1:n.-23C>A