Canonical Allele Identifier: CA2573130490

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1569411
• ClinVar RCV Id: RCV002213286
• dbSNP Id: rs2101522874

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028582A>C , CM000663.2:g.17028582A>C	GRCh38
NC_000001.10:g.17355077A>C , CM000663.1:g.17355077A>C	GRCh37
NC_000001.9:g.17227664A>C	NCBI36
NG_012340.1:g.30589T>G , LRG_316:g.30589T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.252+18T>G	ENSP00000481376.2:n.252+18T>G
ENST00000491274.6:c.381+18T>G	ENSP00000480482.2:n.381+18T>G
ENST00000375499.8:c.423+18T>G MANE Select	ENSP00000364649.3:n.423+18T>G
ENST00000375499.7:c.423+18T>G	ENSP00000364649.3:n.423+18T>G
ENST00000463045.2:c.252+18T>G	ENSP00000481376.1:n.252+18T>G
ENST00000475506.1:n.340+18T>G
ENST00000485515.5:n.357+72T>G
ENST00000491274.5:c.381+18T>G	ENSP00000480482.1:n.381+18T>G
NM_003000.2:c.423+18T>G , LRG_316t1:c.423+18T>G	NP_002991.2:n.423+18T>G
NM_003000.3:c.423+18T>G MANE Select	NP_002991.2:n.423+18T>G