Canonical Allele Identifier: CA999081701
Gene: SDHB HGNC NCBI

Linked Data

dbSNP Id: rs2077967131
gnomAD v3: 1-17022482-C-A
gnomAD v4: 1-17022482-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022482C>A , CM000663.2:g.17022482C>A GRCh38
NC_000001.10:g.17348977C>A , CM000663.1:g.17348977C>A GRCh37
NC_000001.9:g.17221564C>A NCBI36
NG_012340.1:g.36689G>T , LRG_316:g.36689G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.594+126G>T ENSP00000481376.2:n.594+126G>T
ENST00000491274.6:c.723+126G>T ENSP00000480482.2:n.723+126G>T
ENST00000375499.8:c.765+126G>T MANE Select ENSP00000364649.3:n.765+126G>T
ENST00000375499.7:c.765+126G>T ENSP00000364649.3:n.765+126G>T
ENST00000475049.5:n.190+126G>T
ENST00000485092.5:n.429+126G>T
NM_003000.2:c.765+126G>T , LRG_316t1:c.765+126G>T NP_002991.2:n.765+126G>T
NM_003000.3:c.765+126G>T MANE Select NP_002991.2:n.765+126G>T