Canonical Allele Identifier: CA18612377
Gene: SDHB HGNC NCBI

Linked Data

dbSNP Id: rs904155967
gnomAD v2: 1-17380418-C-T
gnomAD v3: 1-17053923-C-T
gnomAD v4: 1-17053923-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053923C>T , CM000663.2:g.17053923C>T GRCh38
NC_000001.10:g.17380418C>T , CM000663.1:g.17380418C>T GRCh37
NC_000001.9:g.17253005C>T NCBI36
NG_012340.1:g.5248G>A , LRG_316:g.5248G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.72+25G>A MANE Select ENSP00000364649.3:n.72+25G>A
ENST00000375499.7:c.72+25G>A ENSP00000364649.3:n.72+25G>A
ENST00000466613.2:n.84+25G>A
ENST00000485515.5:n.60+25G>A
NM_003000.2:c.72+25G>A , LRG_316t1:c.72+25G>A NP_002991.2:n.72+25G>A
NM_003000.3:c.72+25G>A MANE Select NP_002991.2:n.72+25G>A