Canonical Allele Identifier: CA338271358

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1365750
• ClinVar RCV Id: RCV001942759
• dbSNP Id: rs1392463987
• MyVariant Identifiers: chr1:g.17350548G>T (hg19) ; chr1:g.17024053G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17024053G>T , CM000663.2:g.17024053G>T	GRCh38
NC_000001.10:g.17350548G>T , CM000663.1:g.17350548G>T	GRCh37
NC_000001.9:g.17223135G>T	NCBI36
NG_012340.1:g.35118C>A , LRG_316:g.35118C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.391C>A	ENSP00000481376.2:p.Leu131Ile
ENST00000491274.6:c.520C>A	ENSP00000480482.2:p.Leu174Ile
ENST00000375499.8:c.562C>A MANE Select	ENSP00000364649.3:p.Leu188Ile
ENST00000375499.7:c.562C>A	ENSP00000364649.3:p.Leu188Ile
ENST00000485515.5:n.496C>A
ENST00000491274.5:c.520C>A	ENSP00000480482.1:p.Leu174Ile
NM_003000.2:c.562C>A , LRG_316t1:c.562C>A	NP_002991.2:p.Leu188Ile
NM_003000.3:c.562C>A MANE Select	NP_002991.2:p.Leu188Ile