Canonical Allele Identifier: CA2471565

Gene: PDHB

Linked Data

• dbSNP Id: rs751111486
• ExAC: 3:58416575 A / G
• gnomAD v2: 3-58416575-A-G
• gnomAD v4: 3-58430848-A-G
• MyVariant Identifiers: chr3:g.58416575A>G (hg19) ; chr3:g.58430848A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430848A>G , CM000665.2:g.58430848A>G	GRCh38
NC_000003.11:g.58416575A>G , CM000665.1:g.58416575A>G	GRCh37
NC_000003.10:g.58391615A>G	NCBI36
NG_016860.1:g.8005T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.398T>C MANE Select	ENSP00000307241.6:p.Met133Thr
ENST00000302746.10:c.398T>C	ENSP00000307241.6:p.Met133Thr
ENST00000383714.8:c.344T>C	ENSP00000373220.4:p.Met115Thr
ENST00000461692.5:n.511T>C
ENST00000469364.5:c.398T>C	ENSP00000419580.1:p.Met133Thr
ENST00000474765.1:c.344T>C	ENSP00000418448.1:p.Met115Thr
ENST00000479945.1:n.2803T>C
ENST00000480626.5:n.490T>C
ENST00000485460.5:c.398T>C	ENSP00000417267.1:p.Met133Thr
NM_000925.3:c.398T>C	NP_000916.2:p.Met133Thr
NM_001173468.1:c.398T>C	NP_001166939.1:p.Met133Thr
NM_001315536.1:c.344T>C	NP_001302465.1:p.Met115Thr
NR_033384.1:n.511T>C
NM_000925.4:c.398T>C MANE Select	NP_000916.2:p.Met133Thr
NM_001173468.2:c.398T>C	NP_001166939.1:p.Met133Thr
NM_001315536.2:c.344T>C	NP_001302465.1:p.Met115Thr
NR_033384.2:n.504T>C