Canonical Allele Identifier: CA353362903

Gene: PDHB

Linked Data

• MyVariant Identifiers: chr3:g.58417325C>T (hg19) ; chr3:g.58431598C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431598C>T , CM000665.2:g.58431598C>T	GRCh38
NC_000003.11:g.58417325C>T , CM000665.1:g.58417325C>T	GRCh37
NC_000003.10:g.58392365C>T	NCBI36
NG_016860.1:g.7255G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000302746.11:c.298G>A MANE Select	ENSP00000307241.6:p.Ala100Thr
ENST00000302746.10:c.298G>A	ENSP00000307241.6:p.Ala100Thr
ENST00000383714.8:c.244G>A	ENSP00000373220.4:p.Ala82Thr
ENST00000461692.5:n.411G>A
ENST00000469364.5:c.298G>A	ENSP00000419580.1:p.Ala100Thr
ENST00000469827.1:n.420G>A
ENST00000474765.1:c.244G>A	ENSP00000418448.1:p.Ala82Thr
ENST00000479945.1:n.2053G>A
ENST00000480626.5:n.390G>A
ENST00000482894.5:n.317G>A
ENST00000485460.5:c.298G>A	ENSP00000417267.1:p.Ala100Thr
NM_000925.3:c.298G>A	NP_000916.2:p.Ala100Thr
NM_001173468.1:c.298G>A	NP_001166939.1:p.Ala100Thr
NM_001315536.1:c.244G>A	NP_001302465.1:p.Ala82Thr
NR_033384.1:n.411G>A
NM_000925.4:c.298G>A MANE Select	NP_000916.2:p.Ala100Thr
NM_001173468.2:c.298G>A	NP_001166939.1:p.Ala100Thr
NM_001315536.2:c.244G>A	NP_001302465.1:p.Ala82Thr
NR_033384.2:n.404G>A