Canonical Allele Identifier: CA324429

Gene: PDHB

Linked Data

• ClinVar Variation Id: 214952
• ClinVar RCV Id: RCV000199882 ; RCV001144885 ; RCV001275344
• dbSNP Id: rs201105914
• ExAC: 3:58413904 G / C
• gnomAD v2: 3-58413904-G-C
• gnomAD v3: 3-58428177-G-C
• gnomAD v4: 3-58428177-G-C
• MyVariant Identifiers: chr3:g.58413904G>C (hg19) ; chr3:g.58428177G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58428177G>C , CM000665.2:g.58428177G>C	GRCh38
NC_000003.11:g.58413904G>C , CM000665.1:g.58413904G>C	GRCh37
NC_000003.10:g.58388944G>C	NCBI36
NG_016860.1:g.10676C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.937C>G MANE Select	ENSP00000307241.6:p.Pro313Ala
ENST00000302746.10:c.937C>G	ENSP00000307241.6:p.Pro313Ala
ENST00000383714.8:c.883C>G	ENSP00000373220.4:p.Pro295Ala
ENST00000461692.5:n.1050C>G
ENST00000469364.5:c.*323C>G	ENSP00000419580.1:n.*323C>G
ENST00000474765.1:c.1004C>G	ENSP00000418448.1:p.Ser335Cys
ENST00000479945.1:n.3963C>G
ENST00000485460.5:c.883C>G	ENSP00000417267.1:p.Pro295Ala
NM_000925.3:c.937C>G	NP_000916.2:p.Pro313Ala
NM_001173468.1:c.883C>G	NP_001166939.1:p.Pro295Ala
NM_001315536.1:c.883C>G	NP_001302465.1:p.Pro295Ala
NR_033384.1:n.1050C>G
NM_000925.4:c.937C>G MANE Select	NP_000916.2:p.Pro313Ala
NM_001173468.2:c.883C>G	NP_001166939.1:p.Pro295Ala
NM_001315536.2:c.883C>G	NP_001302465.1:p.Pro295Ala
NR_033384.2:n.1043C>G