Canonical Allele Identifier: CA353362884

Gene: PDHB

Linked Data

• ClinVar Variation Id: 978593
• ClinVar RCV Id: RCV001257312
• dbSNP Id: rs2062921303
• MyVariant Identifiers: chr3:g.58417321A>G (hg19) ; chr3:g.58431594A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58431594A>G , CM000665.2:g.58431594A>G	GRCh38
NC_000003.11:g.58417321A>G , CM000665.1:g.58417321A>G	GRCh37
NC_000003.10:g.58392361A>G	NCBI36
NG_016860.1:g.7259T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302746.11:c.302T>C MANE Select	ENSP00000307241.6:p.Met101Thr
ENST00000302746.10:c.302T>C	ENSP00000307241.6:p.Met101Thr
ENST00000383714.8:c.248T>C	ENSP00000373220.4:p.Met83Thr
ENST00000461692.5:n.415T>C
ENST00000469364.5:c.302T>C	ENSP00000419580.1:p.Met101Thr
ENST00000469827.1:n.424T>C
ENST00000474765.1:c.248T>C	ENSP00000418448.1:p.Met83Thr
ENST00000479945.1:n.2057T>C
ENST00000480626.5:n.394T>C
ENST00000482894.5:n.321T>C
ENST00000485460.5:c.302T>C	ENSP00000417267.1:p.Met101Thr
NM_000925.3:c.302T>C	NP_000916.2:p.Met101Thr
NM_001173468.1:c.302T>C	NP_001166939.1:p.Met101Thr
NM_001315536.1:c.248T>C	NP_001302465.1:p.Met83Thr
NR_033384.1:n.415T>C
NM_000925.4:c.302T>C MANE Select	NP_000916.2:p.Met101Thr
NM_001173468.2:c.302T>C	NP_001166939.1:p.Met101Thr
NM_001315536.2:c.248T>C	NP_001302465.1:p.Met83Thr
NR_033384.2:n.408T>C