Canonical Allele Identifier: CA015817

Gene: SDHB

Linked Data

• ClinVar Variation Id: 12787
• ClinVar RCV Id: RCV000013628 ; RCV001021521 ; RCV001857343
• dbSNP Id: rs74315372
• MyVariant Identifiers: chr1:g.17355123T>G (hg19) ; chr1:g.17028628T>G (hg38)
• PubMed: PMID:14715873

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028628T>G , CM000663.2:g.17028628T>G	GRCh38
NC_000001.10:g.17355123T>G , CM000663.1:g.17355123T>G	GRCh37
NC_000001.9:g.17227710T>G	NCBI36
NG_012340.1:g.30543A>C , LRG_316:g.30543A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.224A>C	ENSP00000481376.2:p.His75Pro
ENST00000491274.6:c.353A>C	ENSP00000480482.2:p.His118Pro
ENST00000375499.8:c.395A>C MANE Select	ENSP00000364649.3:p.His132Pro
ENST00000375499.7:c.395A>C	ENSP00000364649.3:p.His132Pro
ENST00000463045.2:c.224A>C	ENSP00000481376.1:p.His75Pro
ENST00000475506.1:n.312A>C
ENST00000485515.5:n.357+26A>C
ENST00000491274.5:c.353A>C	ENSP00000480482.1:p.His118Pro
NM_003000.2:c.395A>C , LRG_316t1:c.395A>C	NP_002991.2:p.His132Pro
NM_003000.3:c.395A>C MANE Select	NP_002991.2:p.His132Pro