Canonical Allele Identifier: CA353361193

Gene: PDHB

Linked Data

• dbSNP Id: rs1433171346
• gnomAD v2: 3-58416447-T-A
• gnomAD v4: 3-58430720-T-A
• MyVariant Identifiers: chr3:g.58416447T>A (hg19) ; chr3:g.58430720T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430720T>A , CM000665.2:g.58430720T>A	GRCh38
NC_000003.11:g.58416447T>A , CM000665.1:g.58416447T>A	GRCh37
NC_000003.10:g.58391487T>A	NCBI36
NG_016860.1:g.8133A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.526A>T MANE Select	ENSP00000307241.6:p.Ser176Cys
ENST00000302746.10:c.526A>T	ENSP00000307241.6:p.Ser176Cys
ENST00000383714.8:c.472A>T	ENSP00000373220.4:p.Ser158Cys
ENST00000461692.5:n.639A>T
ENST00000469364.5:c.526A>T	ENSP00000419580.1:p.Ser176Cys
ENST00000474765.1:c.472A>T	ENSP00000418448.1:p.Ser158Cys
ENST00000479945.1:n.2931A>T
ENST00000480626.5:n.618A>T
ENST00000485460.5:c.472A>T	ENSP00000417267.1:p.Ser158Cys
NM_000925.3:c.526A>T	NP_000916.2:p.Ser176Cys
NM_001173468.1:c.472A>T	NP_001166939.1:p.Ser158Cys
NM_001315536.1:c.472A>T	NP_001302465.1:p.Ser158Cys
NR_033384.1:n.639A>T
NM_000925.4:c.526A>T MANE Select	NP_000916.2:p.Ser176Cys
NM_001173468.2:c.472A>T	NP_001166939.1:p.Ser158Cys
NM_001315536.2:c.472A>T	NP_001302465.1:p.Ser158Cys
NR_033384.2:n.632A>T