Canonical Allele Identifier: CA543261529

Gene: PDHB

Linked Data

• dbSNP Id: rs1484325571
• gnomAD v2: 3-58416700-G-C
• gnomAD v4: 3-58430973-G-C
• MyVariant Identifiers: chr3:g.58416700G>C (hg19) ; chr3:g.58430973G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430973G>C , CM000665.2:g.58430973G>C	GRCh38
NC_000003.11:g.58416700G>C , CM000665.1:g.58416700G>C	GRCh37
NC_000003.10:g.58391740G>C	NCBI36
NG_016860.1:g.7880C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.304-31C>G MANE Select	ENSP00000307241.6:n.304-31C>G
ENST00000302746.10:c.304-31C>G	ENSP00000307241.6:n.304-31C>G
ENST00000383714.8:c.250-31C>G	ENSP00000373220.4:n.250-31C>G
ENST00000461692.5:n.417-31C>G
ENST00000469364.5:c.304-31C>G	ENSP00000419580.1:n.304-31C>G
ENST00000474765.1:c.250-31C>G	ENSP00000418448.1:n.250-31C>G
ENST00000479945.1:n.2678C>G
ENST00000480626.5:n.396-31C>G
ENST00000485460.5:c.304-31C>G	ENSP00000417267.1:n.304-31C>G
NM_000925.3:c.304-31C>G	NP_000916.2:n.304-31C>G
NM_001173468.1:c.304-31C>G	NP_001166939.1:n.304-31C>G
NM_001315536.1:c.250-31C>G	NP_001302465.1:n.250-31C>G
NR_033384.1:n.417-31C>G
NM_000925.4:c.304-31C>G MANE Select	NP_000916.2:n.304-31C>G
NM_001173468.2:c.304-31C>G	NP_001166939.1:n.304-31C>G
NM_001315536.2:c.250-31C>G	NP_001302465.1:n.250-31C>G
NR_033384.2:n.410-31C>G