Canonical Allele Identifier: CA2740094479

Gene: PDHB

Linked Data

• ClinVar Variation Id: 2958085
• ClinVar RCV Id: RCV003814333

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430648T>G , CM000665.2:g.58430648T>G	GRCh38
NC_000003.11:g.58416375T>G , CM000665.1:g.58416375T>G	GRCh37
NC_000003.10:g.58391415T>G	NCBI36
NG_016860.1:g.8205A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.589+9A>C MANE Select	ENSP00000307241.6:n.589+9A>C
ENST00000302746.10:c.589+9A>C	ENSP00000307241.6:n.589+9A>C
ENST00000383714.8:c.535+9A>C	ENSP00000373220.4:n.535+9A>C
ENST00000461692.5:n.702+9A>C
ENST00000469364.5:c.589+9A>C	ENSP00000419580.1:n.589+9A>C
ENST00000474765.1:c.535+9A>C	ENSP00000418448.1:n.535+9A>C
ENST00000479945.1:n.2994+9A>C
ENST00000480626.5:n.681+9A>C
ENST00000485460.5:c.535+9A>C	ENSP00000417267.1:n.535+9A>C
NM_000925.3:c.589+9A>C	NP_000916.2:n.589+9A>C
NM_001173468.1:c.535+9A>C	NP_001166939.1:n.535+9A>C
NM_001315536.1:c.535+9A>C	NP_001302465.1:n.535+9A>C
NR_033384.1:n.702+9A>C
NM_000925.4:c.589+9A>C MANE Select	NP_000916.2:n.589+9A>C
NM_001173468.2:c.535+9A>C	NP_001166939.1:n.535+9A>C
NM_001315536.2:c.535+9A>C	NP_001302465.1:n.535+9A>C
NR_033384.2:n.695+9A>C