Canonical Allele Identifier: CA434040643

Gene: PDHB

Linked Data

• gnomAD v4: 3-58431596-A-G
• MyVariant Identifiers: chr3:g.58417323A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431596A>G , CM000665.2:g.58431596A>G	GRCh38
NC_000003.11:g.58417323A>G , CM000665.1:g.58417323A>G	GRCh37
NC_000003.10:g.58392363A>G	NCBI36
NG_016860.1:g.7257T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302746.11:c.300T>C MANE Select	ENSP00000307241.6:p.Ala100=
ENST00000302746.10:c.300T>C	ENSP00000307241.6:p.Ala100=
ENST00000383714.8:c.246T>C	ENSP00000373220.4:p.Ala82=
ENST00000461692.5:n.413T>C
ENST00000469364.5:c.300T>C	ENSP00000419580.1:p.Ala100=
ENST00000469827.1:n.422T>C
ENST00000474765.1:c.246T>C	ENSP00000418448.1:p.Ala82=
ENST00000479945.1:n.2055T>C
ENST00000480626.5:n.392T>C
ENST00000482894.5:n.319T>C
ENST00000485460.5:c.300T>C	ENSP00000417267.1:p.Ala100=
NM_000925.3:c.300T>C	NP_000916.2:p.Ala100=
NM_001173468.1:c.300T>C	NP_001166939.1:p.Ala100=
NM_001315536.1:c.246T>C	NP_001302465.1:p.Ala82=
NR_033384.1:n.413T>C
NM_000925.4:c.300T>C MANE Select	NP_000916.2:p.Ala100=
NM_001173468.2:c.300T>C	NP_001166939.1:p.Ala100=
NM_001315536.2:c.246T>C	NP_001302465.1:p.Ala82=
NR_033384.2:n.406T>C