Canonical Allele Identifier: CA353362895

Gene: PDHB

Linked Data

• MyVariant Identifiers: chr3:g.58417324G>C (hg19) ; chr3:g.58431597G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431597G>C , CM000665.2:g.58431597G>C	GRCh38
NC_000003.11:g.58417324G>C , CM000665.1:g.58417324G>C	GRCh37
NC_000003.10:g.58392364G>C	NCBI36
NG_016860.1:g.7256C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302746.11:c.299C>G MANE Select	ENSP00000307241.6:p.Ala100Gly
ENST00000302746.10:c.299C>G	ENSP00000307241.6:p.Ala100Gly
ENST00000383714.8:c.245C>G	ENSP00000373220.4:p.Ala82Gly
ENST00000461692.5:n.412C>G
ENST00000469364.5:c.299C>G	ENSP00000419580.1:p.Ala100Gly
ENST00000469827.1:n.421C>G
ENST00000474765.1:c.245C>G	ENSP00000418448.1:p.Ala82Gly
ENST00000479945.1:n.2054C>G
ENST00000480626.5:n.391C>G
ENST00000482894.5:n.318C>G
ENST00000485460.5:c.299C>G	ENSP00000417267.1:p.Ala100Gly
NM_000925.3:c.299C>G	NP_000916.2:p.Ala100Gly
NM_001173468.1:c.299C>G	NP_001166939.1:p.Ala100Gly
NM_001315536.1:c.245C>G	NP_001302465.1:p.Ala82Gly
NR_033384.1:n.412C>G
NM_000925.4:c.299C>G MANE Select	NP_000916.2:p.Ala100Gly
NM_001173468.2:c.299C>G	NP_001166939.1:p.Ala100Gly
NM_001315536.2:c.245C>G	NP_001302465.1:p.Ala82Gly
NR_033384.2:n.405C>G