Canonical Allele Identifier: CA338230876
Gene: SDHB HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17054012G>T
GRCh37 chr1:g.17380507G>T
Revel Score:
ENST00000375499 (MANE Select) 0.592
ClinVar Allele:
1022765
ClinVar RCV:
RCV001349303
ClinVar Variation:
1044970
dbSNP:
11203289
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17054012G>T , CM000663.2:g.17054012G>T GRCh38
NC_000001.10:g.17380507G>T , CM000663.1:g.17380507G>T GRCh37
NC_000001.9:g.17253094G>T NCBI36
NG_012340.1:g.5159C>A , LRG_316:g.5159C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375499.8:c.8C>A MANE Select ENSP00000364649.3:p.Ala3Glu
ENST00000375499.7:c.8C>A ENSP00000364649.3:p.Ala3Glu
ENST00000466613.2:n.20C>A
NM_003000.2:c.8C>A , LRG_316t1:c.8C>A NP_002991.2:p.Ala3Glu
NM_003000.3:c.8C>A MANE Select NP_002991.2:p.Ala3Glu
Search 100 bp 5'
Search 100 bp 3'