Canonical Allele Identifier: CA434040370

Gene: PDHB

Linked Data

• ClinVar Variation Id: 1546407
• ClinVar RCV Id: RCV002170766
• dbSNP Id: rs2107939677
• gnomAD v4: 3-58430844-A-C
• MyVariant Identifiers: chr3:g.58416571A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430844A>C , CM000665.2:g.58430844A>C	GRCh38
NC_000003.11:g.58416571A>C , CM000665.1:g.58416571A>C	GRCh37
NC_000003.10:g.58391611A>C	NCBI36
NG_016860.1:g.8009T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.402T>G MANE Select	ENSP00000307241.6:p.Ser134=
ENST00000302746.10:c.402T>G	ENSP00000307241.6:p.Ser134=
ENST00000383714.8:c.348T>G	ENSP00000373220.4:p.Ser116=
ENST00000461692.5:n.515T>G
ENST00000469364.5:c.402T>G	ENSP00000419580.1:p.Ser134=
ENST00000474765.1:c.348T>G	ENSP00000418448.1:p.Ser116=
ENST00000479945.1:n.2807T>G
ENST00000480626.5:n.494T>G
ENST00000485460.5:c.402T>G	ENSP00000417267.1:p.Ser134=
NM_000925.3:c.402T>G	NP_000916.2:p.Ser134=
NM_001173468.1:c.402T>G	NP_001166939.1:p.Ser134=
NM_001315536.1:c.348T>G	NP_001302465.1:p.Ser116=
NR_033384.1:n.515T>G
NM_000925.4:c.402T>G MANE Select	NP_000916.2:p.Ser134=
NM_001173468.2:c.402T>G	NP_001166939.1:p.Ser134=
NM_001315536.2:c.348T>G	NP_001302465.1:p.Ser116=
NR_033384.2:n.508T>G