Canonical Allele Identifier: CA353361276

Gene: PDHB

Linked Data

• dbSNP Id: rs1303812287
• gnomAD v2: 3-58416467-C-A
• gnomAD v4: 3-58430740-C-A
• MyVariant Identifiers: chr3:g.58416467C>A (hg19) ; chr3:g.58430740C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430740C>A , CM000665.2:g.58430740C>A	GRCh38
NC_000003.11:g.58416467C>A , CM000665.1:g.58416467C>A	GRCh37
NC_000003.10:g.58391507C>A	NCBI36
NG_016860.1:g.8113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.506G>T MANE Select	ENSP00000307241.6:p.Cys169Phe
ENST00000302746.10:c.506G>T	ENSP00000307241.6:p.Cys169Phe
ENST00000383714.8:c.452G>T	ENSP00000373220.4:p.Cys151Phe
ENST00000461692.5:n.619G>T
ENST00000469364.5:c.506G>T	ENSP00000419580.1:p.Cys169Phe
ENST00000474765.1:c.452G>T	ENSP00000418448.1:p.Cys151Phe
ENST00000479945.1:n.2911G>T
ENST00000480626.5:n.598G>T
ENST00000485460.5:c.452G>T	ENSP00000417267.1:p.Cys151Phe
NM_000925.3:c.506G>T	NP_000916.2:p.Cys169Phe
NM_001173468.1:c.452G>T	NP_001166939.1:p.Cys151Phe
NM_001315536.1:c.452G>T	NP_001302465.1:p.Cys151Phe
NR_033384.1:n.619G>T
NM_000925.4:c.506G>T MANE Select	NP_000916.2:p.Cys169Phe
NM_001173468.2:c.452G>T	NP_001166939.1:p.Cys151Phe
NM_001315536.2:c.452G>T	NP_001302465.1:p.Cys151Phe
NR_033384.2:n.612G>T