Canonical Allele Identifier: CA10577678
Gene: SDHB HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17033125T>G
GRCh37 chr1:g.17359620T>G
Revel Score:
ENST00000375499 (MANE Select) 0.939
gnomAD v2:
1:17359620 T / G
gnomAD v3:
1:17033125 T / G
gnomAD v4:
chr1-17033125-T-G
Joint Max Group AF 0.00002255 (AMR)
Genomes Max Group AF 0.00002262 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17033125T>G , CM000663.2:g.17033125T>G GRCh38
NC_000001.10:g.17359620T>G , CM000663.1:g.17359620T>G GRCh37
NC_000001.9:g.17232207T>G NCBI36
NG_012340.1:g.26046A>C , LRG_316:g.26046A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.50A>C ENSP00000481376.2:p.Asp17Ala
ENST00000491274.6:c.179A>C ENSP00000480482.2:p.Asp60Ala
ENST00000375499.8:c.221A>C MANE Select ENSP00000364649.3:p.Asp74Ala
ENST00000375499.7:c.221A>C ENSP00000364649.3:p.Asp74Ala
ENST00000463045.2:c.50A>C ENSP00000481376.1:p.Asp17Ala
ENST00000466613.2:n.233A>C
ENST00000475506.1:n.138A>C
ENST00000485515.5:n.209A>C
ENST00000491274.5:c.179A>C ENSP00000480482.1:p.Asp60Ala
NM_003000.2:c.221A>C , LRG_316t1:c.221A>C NP_002991.2:p.Asp74Ala
NM_003000.3:c.221A>C MANE Select NP_002991.2:p.Asp74Ala
Search 100 bp 5'
Search 100 bp 3'