Canonical Allele Identifier: CA2471336

Gene: PDHB

Linked Data

• ClinVar Variation Id: 346400
• ClinVar RCV Id: RCV000285224 ; RCV001653668
• dbSNP Id: rs1126722
• ExAC: 3:58413518 T / G
• gnomAD v2: 3-58413518-T-G
• gnomAD v3: 3-58427791-T-G
• gnomAD v4: 3-58427791-T-G
• MyVariant Identifiers: chr3:g.58413518T>G (hg19) ; chr3:g.58427791T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58427791T>G , CM000665.2:g.58427791T>G	GRCh38
NC_000003.11:g.58413518T>G , CM000665.1:g.58413518T>G	GRCh37
NC_000003.10:g.58388558T>G	NCBI36
NG_016860.1:g.11062A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.*243A>C MANE Select	ENSP00000307241.6:n.*243A>C
ENST00000302746.10:c.*243A>C	ENSP00000307241.6:n.*243A>C
ENST00000383714.8:c.*243A>C	ENSP00000373220.4:n.*243A>C
ENST00000461692.5:n.1436A>C
ENST00000469364.5:c.*709A>C	ENSP00000419580.1:n.*709A>C
ENST00000474765.1:c.*337A>C	ENSP00000418448.1:n.*337A>C
ENST00000479945.1:n.4349A>C
ENST00000485460.5:c.*243A>C	ENSP00000417267.1:n.*243A>C
NM_000925.3:c.*243A>C	NP_000916.2:n.*243A>C
NM_001173468.1:c.*243A>C	NP_001166939.1:n.*243A>C
NM_001315536.1:c.*243A>C	NP_001302465.1:n.*243A>C
NR_033384.1:n.1436A>C
NM_000925.4:c.*243A>C MANE Select	NP_000916.2:n.*243A>C
NM_001173468.2:c.*243A>C	NP_001166939.1:n.*243A>C
NM_001315536.2:c.*243A>C	NP_001302465.1:n.*243A>C
NR_033384.2:n.1429A>C