Canonical Allele Identifier: CA416048665
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2132967
ClinVar RCV Id: RCV003063923
MyVariant Identifiers: chr1:g.17380446C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053951C>G , CM000663.2:g.17053951C>G GRCh38
NC_000001.10:g.17380446C>G , CM000663.1:g.17380446C>G GRCh37
NC_000001.9:g.17253033C>G NCBI36
NG_012340.1:g.5220G>C , LRG_316:g.5220G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.69G>C MANE Select ENSP00000364649.3:p.Leu23=
ENST00000375499.7:c.69G>C ENSP00000364649.3:p.Leu23=
ENST00000466613.2:n.81G>C
ENST00000485515.5:n.57G>C
NM_003000.2:c.69G>C , LRG_316t1:c.69G>C NP_002991.2:p.Leu23=
NM_003000.3:c.69G>C MANE Select NP_002991.2:p.Leu23=