Canonical Allele Identifier: CA1048406050

Gene: PDHB

Linked Data

• dbSNP Id: rs2062915754
• gnomAD v3: 3-58431048-T-C
• gnomAD v4: 3-58431048-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431048T>C , CM000665.2:g.58431048T>C	GRCh38
NC_000003.11:g.58416775T>C , CM000665.1:g.58416775T>C	GRCh37
NC_000003.10:g.58391815T>C	NCBI36
NG_016860.1:g.7805A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.304-106A>G MANE Select	ENSP00000307241.6:n.304-106A>G
ENST00000302746.10:c.304-106A>G	ENSP00000307241.6:n.304-106A>G
ENST00000383714.8:c.250-106A>G	ENSP00000373220.4:n.250-106A>G
ENST00000461692.5:n.417-106A>G
ENST00000469364.5:c.304-106A>G	ENSP00000419580.1:n.304-106A>G
ENST00000474765.1:c.250-106A>G	ENSP00000418448.1:n.250-106A>G
ENST00000479945.1:n.2603A>G
ENST00000480626.5:n.396-106A>G
ENST00000485460.5:c.304-106A>G	ENSP00000417267.1:n.304-106A>G
NM_000925.3:c.304-106A>G	NP_000916.2:n.304-106A>G
NM_001173468.1:c.304-106A>G	NP_001166939.1:n.304-106A>G
NM_001315536.1:c.250-106A>G	NP_001302465.1:n.250-106A>G
NR_033384.1:n.417-106A>G
NM_000925.4:c.304-106A>G MANE Select	NP_000916.2:n.304-106A>G
NM_001173468.2:c.304-106A>G	NP_001166939.1:n.304-106A>G
NM_001315536.2:c.250-106A>G	NP_001302465.1:n.250-106A>G
NR_033384.2:n.410-106A>G