Canonical Allele Identifier: CA338274236
Gene: SDHB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028634A>C , CM000663.2:g.17028634A>C GRCh38
NC_000001.10:g.17355129A>C , CM000663.1:g.17355129A>C GRCh37
NC_000001.9:g.17227716A>C NCBI36
NG_012340.1:g.30537T>G , LRG_316:g.30537T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.218T>G ENSP00000481376.2:p.Leu73Arg
ENST00000491274.6:c.347T>G ENSP00000480482.2:p.Leu116Arg
ENST00000375499.8:c.389T>G MANE Select ENSP00000364649.3:p.Leu130Arg
ENST00000375499.7:c.389T>G ENSP00000364649.3:p.Leu130Arg
ENST00000463045.2:c.218T>G ENSP00000481376.1:p.Leu73Arg
ENST00000475506.1:n.306T>G
ENST00000485515.5:n.357+20T>G
ENST00000491274.5:c.347T>G ENSP00000480482.1:p.Leu116Arg
NM_003000.2:c.389T>G , LRG_316t1:c.389T>G NP_002991.2:p.Leu130Arg
NM_003000.3:c.389T>G MANE Select NP_002991.2:p.Leu130Arg