Canonical Allele Identifier: CA338270242

Gene: SDHB

Linked Data

• ClinVar Variation Id: 577973
• ClinVar RCV Id: RCV000700844
• dbSNP Id: rs201098090
• gnomAD v4: 1-17022657-G-T
• MyVariant Identifiers: chr1:g.17349152G>T (hg19) ; chr1:g.17022657G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17022657G>T , CM000663.2:g.17022657G>T	GRCh38
NC_000001.10:g.17349152G>T , CM000663.1:g.17349152G>T	GRCh37
NC_000001.9:g.17221739G>T	NCBI36
NG_012340.1:g.36514C>A , LRG_316:g.36514C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.545C>A	ENSP00000481376.2:p.Ser182Tyr
ENST00000491274.6:c.674C>A	ENSP00000480482.2:p.Ser225Tyr
ENST00000375499.8:c.716C>A MANE Select	ENSP00000364649.3:p.Ser239Tyr
ENST00000375499.7:c.716C>A	ENSP00000364649.3:p.Ser239Tyr
ENST00000475049.5:n.141C>A
ENST00000485092.5:n.380C>A
ENST00000485515.5:n.650C>A
NM_003000.2:c.716C>A , LRG_316t1:c.716C>A	NP_002991.2:p.Ser239Tyr
NM_003000.3:c.716C>A MANE Select	NP_002991.2:p.Ser239Tyr