Canonical Allele Identifier: CA338273808

Gene: SDHB

Linked Data

• ClinVar Variation Id: 528725
• ClinVar RCV Id: RCV000633947
• dbSNP Id: rs1553177734
• MyVariant Identifiers: chr1:g.17355096G>C (hg19) ; chr1:g.17028601G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028601G>C , CM000663.2:g.17028601G>C	GRCh38
NC_000001.10:g.17355096G>C , CM000663.1:g.17355096G>C	GRCh37
NC_000001.9:g.17227683G>C	NCBI36
NG_012340.1:g.30570C>G , LRG_316:g.30570C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.251C>G	ENSP00000481376.2:p.Pro84Arg
ENST00000491274.6:c.380C>G	ENSP00000480482.2:p.Pro127Arg
ENST00000375499.8:c.422C>G MANE Select	ENSP00000364649.3:p.Pro141Arg
ENST00000375499.7:c.422C>G	ENSP00000364649.3:p.Pro141Arg
ENST00000463045.2:c.251C>G	ENSP00000481376.1:p.Pro84Arg
ENST00000475506.1:n.339C>G
ENST00000485515.5:n.357+53C>G
ENST00000491274.5:c.380C>G	ENSP00000480482.1:p.Pro127Arg
NM_003000.2:c.422C>G , LRG_316t1:c.422C>G	NP_002991.2:p.Pro141Arg
NM_003000.3:c.422C>G MANE Select	NP_002991.2:p.Pro141Arg