Canonical Allele Identifier: CA338272790

Gene: SDHB

Linked Data

• ClinVar Variation Id: 582341
• ClinVar RCV Id: RCV000706391 ; RCV002334388
• dbSNP Id: rs1049317868
• MyVariant Identifiers: chr1:g.17354302T>A (hg19) ; chr1:g.17027807T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027807T>A , CM000663.2:g.17027807T>A	GRCh38
NC_000001.10:g.17354302T>A , CM000663.1:g.17354302T>A	GRCh37
NC_000001.9:g.17226889T>A	NCBI36
NG_012340.1:g.31364A>T , LRG_316:g.31364A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.311A>T	ENSP00000481376.2:p.Asp104Val
ENST00000491274.6:c.440A>T	ENSP00000480482.2:p.Asp147Val
ENST00000375499.8:c.482A>T MANE Select	ENSP00000364649.3:p.Asp161Val
ENST00000375499.7:c.482A>T	ENSP00000364649.3:p.Asp161Val
ENST00000463045.2:c.311A>T	ENSP00000481376.1:p.Asp104Val
ENST00000475506.1:n.399A>T
ENST00000485515.5:n.416A>T
ENST00000491274.5:c.440A>T	ENSP00000480482.1:p.Asp147Val
NM_003000.2:c.482A>T , LRG_316t1:c.482A>T	NP_002991.2:p.Asp161Val
NM_003000.3:c.482A>T MANE Select	NP_002991.2:p.Asp161Val