Canonical Allele Identifier: CA521029970
Gene: SDHB HGNC NCBI

Linked Data

dbSNP Id: rs1190636507
gnomAD v2: 1-17380384-G-A
gnomAD v3: 1-17053889-G-A
gnomAD v4: 1-17053889-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053889G>A , CM000663.2:g.17053889G>A GRCh38
NC_000001.10:g.17380384G>A , CM000663.1:g.17380384G>A GRCh37
NC_000001.9:g.17252971G>A NCBI36
NG_012340.1:g.5282C>T , LRG_316:g.5282C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.72+59C>T MANE Select ENSP00000364649.3:n.72+59C>T
ENST00000375499.7:c.72+59C>T ENSP00000364649.3:n.72+59C>T
ENST00000466613.2:n.84+59C>T
ENST00000485515.5:n.60+59C>T
NM_003000.2:c.72+59C>T , LRG_316t1:c.72+59C>T NP_002991.2:n.72+59C>T
NM_003000.3:c.72+59C>T MANE Select NP_002991.2:n.72+59C>T