Canonical Allele Identifier: CA338270139

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2123099
• ClinVar RCV Id: RCV003047197 ; RCV003170928
• MyVariant Identifiers: chr1:g.17349135T>C (hg19) ; chr1:g.17022640T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022640T>C , CM000663.2:g.17022640T>C	GRCh38
NC_000001.10:g.17349135T>C , CM000663.1:g.17349135T>C	GRCh37
NC_000001.9:g.17221722T>C	NCBI36
NG_012340.1:g.36531A>G , LRG_316:g.36531A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.562A>G	ENSP00000481376.2:p.Thr188Ala
ENST00000491274.6:c.691A>G	ENSP00000480482.2:p.Thr231Ala
ENST00000375499.8:c.733A>G MANE Select	ENSP00000364649.3:p.Thr245Ala
ENST00000375499.7:c.733A>G	ENSP00000364649.3:p.Thr245Ala
ENST00000475049.5:n.158A>G
ENST00000485092.5:n.397A>G
ENST00000485515.5:n.667A>G
NM_003000.2:c.733A>G , LRG_316t1:c.733A>G	NP_002991.2:p.Thr245Ala
NM_003000.3:c.733A>G MANE Select	NP_002991.2:p.Thr245Ala