Canonical Allele Identifier: CA2666298783

Gene: PDHB

Linked Data

• gnomAD v4: 3-58431486-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431486G>A , CM000665.2:g.58431486G>A	GRCh38
NC_000003.11:g.58417213G>A , CM000665.1:g.58417213G>A	GRCh37
NC_000003.10:g.58392253G>A	NCBI36
NG_016860.1:g.7367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.303+107C>T MANE Select	ENSP00000307241.6:n.303+107C>T
ENST00000302746.10:c.303+107C>T	ENSP00000307241.6:n.303+107C>T
ENST00000383714.8:c.249+107C>T	ENSP00000373220.4:n.249+107C>T
ENST00000461692.5:n.416+107C>T
ENST00000469364.5:c.303+107C>T	ENSP00000419580.1:n.303+107C>T
ENST00000469827.1:n.532C>T
ENST00000474765.1:c.249+107C>T	ENSP00000418448.1:n.249+107C>T
ENST00000479945.1:n.2165C>T
ENST00000480626.5:n.395+107C>T
ENST00000482894.5:n.429C>T
ENST00000485460.5:c.303+107C>T	ENSP00000417267.1:n.303+107C>T
NM_000925.3:c.303+107C>T	NP_000916.2:n.303+107C>T
NM_001173468.1:c.303+107C>T	NP_001166939.1:n.303+107C>T
NM_001315536.1:c.249+107C>T	NP_001302465.1:n.249+107C>T
NR_033384.1:n.416+107C>T
NM_000925.4:c.303+107C>T MANE Select	NP_000916.2:n.303+107C>T
NM_001173468.2:c.303+107C>T	NP_001166939.1:n.303+107C>T
NM_001315536.2:c.249+107C>T	NP_001302465.1:n.249+107C>T
NR_033384.2:n.409+107C>T