Canonical Allele Identifier: CA338275056
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 528728
ClinVar RCV Id: RCV000633951

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028715A>G , CM000663.2:g.17028715A>G GRCh38
NC_000001.10:g.17355210A>G , CM000663.1:g.17355210A>G GRCh37
NC_000001.9:g.17227797A>G NCBI36
NG_012340.1:g.30456T>C , LRG_316:g.30456T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.308T>C MANE Select ENSP00000364649.3:p.Met103Thr
ENST00000375499.7:c.308T>C ENSP00000364649.3:p.Met103Thr
ENST00000463045.2:c.137T>C ENSP00000481376.1:p.Met46Thr
ENST00000475506.1:n.225T>C
ENST00000485515.5:n.296T>C
ENST00000491274.5:c.266T>C ENSP00000480482.1:p.Met89Thr
NM_003000.2:c.308T>C , LRG_316t1:c.308T>C NP_002991.2:p.Met103Thr
NM_003000.3:c.308T>C MANE Select NP_002991.2:p.Met103Thr