Canonical Allele Identifier: CA279918
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 219154
ClinVar RCV Id: RCV000203511
dbSNP Id: rs864321638

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17033119A>C , CM000663.2:g.17033119A>C GRCh38
NC_000001.10:g.17359614A>C , CM000663.1:g.17359614A>C GRCh37
NC_000001.9:g.17232201A>C NCBI36
NG_012340.1:g.26052T>G , LRG_316:g.26052T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.56T>G ENSP00000481376.2:p.Leu19Ter
ENST00000491274.6:c.185T>G ENSP00000480482.2:p.Leu62Ter
ENST00000375499.8:c.227T>G MANE Select ENSP00000364649.3:p.Leu76Ter
ENST00000375499.7:c.227T>G ENSP00000364649.3:p.Leu76Ter
ENST00000463045.2:c.56T>G ENSP00000481376.1:p.Leu19Ter
ENST00000466613.2:n.239T>G
ENST00000475506.1:n.144T>G
ENST00000485515.5:n.215T>G
ENST00000491274.5:c.185T>G ENSP00000480482.1:p.Leu62Ter
NM_003000.2:c.227T>G , LRG_316t1:c.227T>G NP_002991.2:p.Leu76Ter
NM_003000.3:c.227T>G MANE Select NP_002991.2:p.Leu76Ter