Canonical Allele Identifier: CA338275124
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 486417

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028724G>C , CM000663.2:g.17028724G>C GRCh38
NC_000001.10:g.17355219G>C , CM000663.1:g.17355219G>C GRCh37
NC_000001.9:g.17227806G>C NCBI36
NG_012340.1:g.30447C>G , LRG_316:g.30447C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.299C>G MANE Select ENSP00000364649.3:p.Ser100Cys
ENST00000375499.7:c.299C>G ENSP00000364649.3:p.Ser100Cys
ENST00000463045.2:c.128C>G ENSP00000481376.1:p.Ser43Cys
ENST00000475506.1:n.216C>G
ENST00000485515.5:n.287C>G
ENST00000491274.5:c.257C>G ENSP00000480482.1:p.Ser86Cys
NM_003000.2:c.299C>G , LRG_316t1:c.299C>G NP_002991.2:p.Ser100Cys
NM_003000.3:c.299C>G MANE Select NP_002991.2:p.Ser100Cys