Canonical Allele Identifier: CA2471563

Gene: PDHB

Linked Data

• ClinVar Variation Id: 721851
• ClinVar RCV Id: RCV000895417 ; RCV001275617
• dbSNP Id: rs762644804
• ExAC: 3:58416556 A / G
• gnomAD v2: 3-58416556-A-G
• gnomAD v3: 3-58430829-A-G
• gnomAD v4: 3-58430829-A-G
• MyVariant Identifiers: chr3:g.58416556A>G (hg19) ; chr3:g.58430829A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430829A>G , CM000665.2:g.58430829A>G	GRCh38
NC_000003.11:g.58416556A>G , CM000665.1:g.58416556A>G	GRCh37
NC_000003.10:g.58391596A>G	NCBI36
NG_016860.1:g.8024T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.417T>C MANE Select	ENSP00000307241.6:p.Pro139=
ENST00000302746.10:c.417T>C	ENSP00000307241.6:p.Pro139=
ENST00000383714.8:c.363T>C	ENSP00000373220.4:p.Pro121=
ENST00000461692.5:n.530T>C
ENST00000469364.5:c.417T>C	ENSP00000419580.1:p.Pro139=
ENST00000474765.1:c.363T>C	ENSP00000418448.1:p.Pro121=
ENST00000479945.1:n.2822T>C
ENST00000480626.5:n.509T>C
ENST00000485460.5:c.403+14T>C	ENSP00000417267.1:n.403+14T>C
NM_000925.3:c.417T>C	NP_000916.2:p.Pro139=
NM_001173468.1:c.403+14T>C	NP_001166939.1:n.403+14T>C
NM_001315536.1:c.363T>C	NP_001302465.1:p.Pro121=
NR_033384.1:n.530T>C
NM_000925.4:c.417T>C MANE Select	NP_000916.2:p.Pro139=
NM_001173468.2:c.403+14T>C	NP_001166939.1:n.403+14T>C
NM_001315536.2:c.363T>C	NP_001302465.1:p.Pro121=
NR_033384.2:n.523T>C