Canonical Allele Identifier: CA2471551

Gene: PDHB

Linked Data

• ClinVar Variation Id: 1111244
• ClinVar RCV Id: RCV001437782
• dbSNP Id: rs200016955
• ExAC: 3:58416481 G / A
• gnomAD v2: 3-58416481-G-A
• gnomAD v3: 3-58430754-G-A
• gnomAD v4: 3-58430754-G-A
• MyVariant Identifiers: chr3:g.58416481G>A (hg19) ; chr3:g.58430754G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430754G>A , CM000665.2:g.58430754G>A	GRCh38
NC_000003.11:g.58416481G>A , CM000665.1:g.58416481G>A	GRCh37
NC_000003.10:g.58391521G>A	NCBI36
NG_016860.1:g.8099C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.492C>T MANE Select	ENSP00000307241.6:p.Ala164=
ENST00000302746.10:c.492C>T	ENSP00000307241.6:p.Ala164=
ENST00000383714.8:c.438C>T	ENSP00000373220.4:p.Ala146=
ENST00000461692.5:n.605C>T
ENST00000469364.5:c.492C>T	ENSP00000419580.1:p.Ala164=
ENST00000474765.1:c.438C>T	ENSP00000418448.1:p.Ala146=
ENST00000479945.1:n.2897C>T
ENST00000480626.5:n.584C>T
ENST00000485460.5:c.438C>T	ENSP00000417267.1:p.Ala146=
NM_000925.3:c.492C>T	NP_000916.2:p.Ala164=
NM_001173468.1:c.438C>T	NP_001166939.1:p.Ala146=
NM_001315536.1:c.438C>T	NP_001302465.1:p.Ala146=
NR_033384.1:n.605C>T
NM_000925.4:c.492C>T MANE Select	NP_000916.2:p.Ala164=
NM_001173468.2:c.438C>T	NP_001166939.1:p.Ala146=
NM_001315536.2:c.438C>T	NP_001302465.1:p.Ala146=
NR_033384.2:n.598C>T