Canonical Allele Identifier: CA338272724

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1320918
• ClinVar RCV Id: RCV001776897 ; RCV003163917 ; RCV003475083
• dbSNP Id: rs2101521665
• MyVariant Identifiers: chr1:g.17354291C>T (hg19) ; chr1:g.17027796C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027796C>T , CM000663.2:g.17027796C>T	GRCh38
NC_000001.10:g.17354291C>T , CM000663.1:g.17354291C>T	GRCh37
NC_000001.9:g.17226878C>T	NCBI36
NG_012340.1:g.31375G>A , LRG_316:g.31375G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.322G>A	ENSP00000481376.2:p.Glu108Lys
ENST00000491274.6:c.451G>A	ENSP00000480482.2:p.Glu151Lys
ENST00000375499.8:c.493G>A MANE Select	ENSP00000364649.3:p.Glu165Lys
ENST00000375499.7:c.493G>A	ENSP00000364649.3:p.Glu165Lys
ENST00000463045.2:c.322G>A	ENSP00000481376.1:p.Glu108Lys
ENST00000475506.1:n.410G>A
ENST00000485515.5:n.427G>A
ENST00000491274.5:c.451G>A	ENSP00000480482.1:p.Glu151Lys
NM_003000.2:c.493G>A , LRG_316t1:c.493G>A	NP_002991.2:p.Glu165Lys
NM_003000.3:c.493G>A MANE Select	NP_002991.2:p.Glu165Lys