Canonical Allele Identifier: CA353361353

Gene: PDHB

Linked Data

• dbSNP Id: rs1217309133
• gnomAD v2: 3-58416483-C-G
• gnomAD v4: 3-58430756-C-G
• MyVariant Identifiers: chr3:g.58416483C>G (hg19) ; chr3:g.58430756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58430756C>G , CM000665.2:g.58430756C>G	GRCh38
NC_000003.11:g.58416483C>G , CM000665.1:g.58416483C>G	GRCh37
NC_000003.10:g.58391523C>G	NCBI36
NG_016860.1:g.8097G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.490G>C MANE Select	ENSP00000307241.6:p.Ala164Pro
ENST00000302746.10:c.490G>C	ENSP00000307241.6:p.Ala164Pro
ENST00000383714.8:c.436G>C	ENSP00000373220.4:p.Ala146Pro
ENST00000461692.5:n.603G>C
ENST00000469364.5:c.490G>C	ENSP00000419580.1:p.Ala164Pro
ENST00000474765.1:c.436G>C	ENSP00000418448.1:p.Ala146Pro
ENST00000479945.1:n.2895G>C
ENST00000480626.5:n.582G>C
ENST00000485460.5:c.436G>C	ENSP00000417267.1:p.Ala146Pro
NM_000925.3:c.490G>C	NP_000916.2:p.Ala164Pro
NM_001173468.1:c.436G>C	NP_001166939.1:p.Ala146Pro
NM_001315536.1:c.436G>C	NP_001302465.1:p.Ala146Pro
NR_033384.1:n.603G>C
NM_000925.4:c.490G>C MANE Select	NP_000916.2:p.Ala164Pro
NM_001173468.2:c.436G>C	NP_001166939.1:p.Ala146Pro
NM_001315536.2:c.436G>C	NP_001302465.1:p.Ala146Pro
NR_033384.2:n.596G>C