Canonical Allele Identifier: CA75457575

Gene: PDHB

Linked Data

• dbSNP Id: rs759166717
• gnomAD v3: 3-58431490-C-G
• gnomAD v4: 3-58431490-C-G
• MyVariant Identifiers: chr3:g.58417217C>G (hg19) ; chr3:g.58431490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431490C>G , CM000665.2:g.58431490C>G	GRCh38
NC_000003.11:g.58417217C>G , CM000665.1:g.58417217C>G	GRCh37
NC_000003.10:g.58392257C>G	NCBI36
NG_016860.1:g.7363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.303+103G>C MANE Select	ENSP00000307241.6:n.303+103G>C
ENST00000302746.10:c.303+103G>C	ENSP00000307241.6:n.303+103G>C
ENST00000383714.8:c.249+103G>C	ENSP00000373220.4:n.249+103G>C
ENST00000461692.5:n.416+103G>C
ENST00000469364.5:c.303+103G>C	ENSP00000419580.1:n.303+103G>C
ENST00000469827.1:n.528G>C
ENST00000474765.1:c.249+103G>C	ENSP00000418448.1:n.249+103G>C
ENST00000479945.1:n.2161G>C
ENST00000480626.5:n.395+103G>C
ENST00000482894.5:n.425G>C
ENST00000485460.5:c.303+103G>C	ENSP00000417267.1:n.303+103G>C
NM_000925.3:c.303+103G>C	NP_000916.2:n.303+103G>C
NM_001173468.1:c.303+103G>C	NP_001166939.1:n.303+103G>C
NM_001315536.1:c.249+103G>C	NP_001302465.1:n.249+103G>C
NR_033384.1:n.416+103G>C
NM_000925.4:c.303+103G>C MANE Select	NP_000916.2:n.303+103G>C
NM_001173468.2:c.303+103G>C	NP_001166939.1:n.303+103G>C
NM_001315536.2:c.249+103G>C	NP_001302465.1:n.249+103G>C
NR_033384.2:n.409+103G>C