Canonical Allele Identifier: CA10638371

Gene: PDHX

Linked Data

• ClinVar Variation Id: 304484
• ClinVar RCV Id: RCV000380152
• dbSNP Id: rs577162977
• gnomAD v2: 11-35017462-G-A
• gnomAD v3: 11-34995915-G-A
• gnomAD v4: 11-34995915-G-A
• MyVariant Identifiers: chr11:g.35017462G>A (hg19) ; chr11:g.34995915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.34995915G>A , CM000673.2:g.34995915G>A	GRCh38
NC_000011.9:g.35017462G>A , CM000673.1:g.35017462G>A	GRCh37
NC_000011.8:g.34974038G>A	NCBI36
NG_013368.1:g.84786G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000448838.8:c.*743G>A	ENSP00000389404.3:n.*743G>A
ENST00000227868.9:c.*743G>A MANE Select	ENSP00000227868.4:n.*743G>A
ENST00000227868.8:c.*743G>A	ENSP00000227868.4:n.*743G>A
ENST00000448838.7:c.*743G>A	ENSP00000389404.2:n.*743G>A
ENST00000477173.3:n.161+3536G>A
NM_001135024.1:c.*743G>A	NP_001128496.1:n.*743G>A
NM_001166158.1:c.*743G>A	NP_001159630.1:n.*743G>A
NM_003477.2:c.*743G>A	NP_003468.2:n.*743G>A
XM_011520390.1:c.*743G>A	XP_011518692.1:n.*743G>A
NM_003477.3:c.*743G>A MANE Select	NP_003468.2:n.*743G>A
NM_001135024.2:c.*743G>A	NP_001128496.2:n.*743G>A
NM_001166158.2:c.*743G>A	NP_001159630.1:n.*743G>A