Canonical Allele Identifier: CA353361847

Gene: PDHB

Linked Data

• dbSNP Id: rs4264746
• MyVariant Identifiers: chr3:g.58416538T>G (hg19) ; chr3:g.58430811T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430811T>G , CM000665.2:g.58430811T>G	GRCh38
NC_000003.11:g.58416538T>G , CM000665.1:g.58416538T>G	GRCh37
NC_000003.10:g.58391578T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.435A>C MANE Select	ENSP00000307241.6:p.Arg145Ser
ENST00000302746.10:c.435A>C	ENSP00000307241.6:p.Arg145Ser
ENST00000383714.8:c.381A>C	ENSP00000373220.4:p.Arg127Ser
ENST00000461692.5:n.548A>C
ENST00000469364.5:c.435A>C	ENSP00000419580.1:p.Arg145Ser
ENST00000474765.1:c.381A>C	ENSP00000418448.1:p.Arg127Ser
ENST00000479945.1:n.2840A>C
ENST00000480626.5:n.527A>C
ENST00000485460.5:c.404-23A>C	ENSP00000417267.1:n.404-23A>C
NM_001173468.1:c.404-23A>C	NP_001166939.1:n.404-23A>C
NM_000925.4:c.435A>C MANE Select	NP_000916.2:p.Arg145Ser
NM_001173468.2:c.404-23A>C	NP_001166939.1:n.404-23A>C
NM_001315536.2:c.381A>C	NP_001302465.1:p.Arg127Ser
NR_033384.2:n.541A>C