Canonical Allele Identifier: CA015701
Gene: SDHB HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17033060C>T
GRCh37 chr1:g.17359555C>T
Revel Score:
ENST00000375499 (MANE Select) 0.967
gnomAD v2:
1:17359555 C / T
gnomAD v3:
1:17033060 C / T
gnomAD v4:
chr1-17033060-C-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17033060C>T , CM000663.2:g.17033060C>T GRCh38
NC_000001.10:g.17359555C>T , CM000663.1:g.17359555C>T GRCh37
NC_000001.9:g.17232142C>T NCBI36
NG_012340.1:g.26111G>A , LRG_316:g.26111G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.115G>A ENSP00000481376.2:p.Gly39Ser
ENST00000491274.6:c.244G>A ENSP00000480482.2:p.Gly82Ser
ENST00000375499.8:c.286G>A MANE Select ENSP00000364649.3:p.Gly96Ser
ENST00000375499.7:c.286G>A ENSP00000364649.3:p.Gly96Ser
ENST00000463045.2:c.115G>A ENSP00000481376.1:p.Gly39Ser
ENST00000466613.2:n.298G>A
ENST00000475506.1:n.203G>A
ENST00000485515.5:n.274G>A
ENST00000491274.5:c.244G>A ENSP00000480482.1:p.Gly82Ser
NM_003000.2:c.286G>A , LRG_316t1:c.286G>A NP_002991.2:p.Gly96Ser
NM_003000.3:c.286G>A MANE Select NP_002991.2:p.Gly96Ser
Search 100 bp 5'
Search 100 bp 3'