Canonical Allele Identifier: CA521036474
Gene: SDHB HGNC NCBI

Linked Data

dbSNP Id: rs1215032260
gnomAD v2: 1-17345263-T-G
gnomAD v3: 1-17018768-T-G
gnomAD v4: 1-17018768-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17018768T>G , CM000663.2:g.17018768T>G GRCh38
NC_000001.10:g.17345263T>G , CM000663.1:g.17345263T>G GRCh37
NC_000001.9:g.17217850T>G NCBI36
NG_012340.1:g.40403A>C , LRG_316:g.40403A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.*113A>C ENSP00000481376.2:n.*113A>C
ENST00000491274.6:c.*113A>C ENSP00000480482.2:n.*113A>C
ENST00000375499.8:c.*113A>C MANE Select ENSP00000364649.3:n.*113A>C
ENST00000375499.7:c.*113A>C ENSP00000364649.3:n.*113A>C
ENST00000475049.5:n.381A>C
ENST00000485092.5:n.620A>C
NM_003000.2:c.*113A>C , LRG_316t1:c.*113A>C NP_002991.2:n.*113A>C
NM_003000.3:c.*113A>C MANE Select NP_002991.2:n.*113A>C