Canonical Allele Identifier: CA2471462

Gene: PDHB

Linked Data

• ClinVar Variation Id: 2909971
• ClinVar RCV Id: RCV003627409
• dbSNP Id: rs769394650
• ExAC: 3:58415417 A / G
• gnomAD v2: 3-58415417-A-G
• gnomAD v3: 3-58429690-A-G
• gnomAD v4: 3-58429690-A-G
• MyVariant Identifiers: chr3:g.58415417A>G (hg19) ; chr3:g.58429690A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58429690A>G , CM000665.2:g.58429690A>G	GRCh38
NC_000003.11:g.58415417A>G , CM000665.1:g.58415417A>G	GRCh37
NC_000003.10:g.58390457A>G	NCBI36
NG_016860.1:g.9163T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.792+18T>C MANE Select	ENSP00000307241.6:n.792+18T>C
ENST00000302746.10:c.792+18T>C	ENSP00000307241.6:n.792+18T>C
ENST00000383714.8:c.738+18T>C	ENSP00000373220.4:n.738+18T>C
ENST00000461692.5:n.905+18T>C
ENST00000469364.5:c.*178+18T>C	ENSP00000419580.1:n.*178+18T>C
ENST00000474765.1:c.738+18T>C	ENSP00000418448.1:n.738+18T>C
ENST00000479945.1:n.3525+18T>C
ENST00000485460.5:c.738+18T>C	ENSP00000417267.1:n.738+18T>C
NM_000925.3:c.792+18T>C	NP_000916.2:n.792+18T>C
NM_001173468.1:c.738+18T>C	NP_001166939.1:n.738+18T>C
NM_001315536.1:c.738+18T>C	NP_001302465.1:n.738+18T>C
NR_033384.1:n.905+18T>C
NM_000925.4:c.792+18T>C MANE Select	NP_000916.2:n.792+18T>C
NM_001173468.2:c.738+18T>C	NP_001166939.1:n.738+18T>C
NM_001315536.2:c.738+18T>C	NP_001302465.1:n.738+18T>C
NR_033384.2:n.898+18T>C