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Canonical Allele Identifier:
CA312206825
Gene: OTOR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr20:g.16760180T>C
GRCh37
chr20:g.16740825T>C
Linked Data - Sequence & Population
gnomAD v2:
20:16740825 T / C
gnomAD v3:
20:16760180 T / C
gnomAD v4:
chr20-16760180-T-C
Joint Max Group AF
0.27535373 (AFR)
Genomes Max Group AF
0.27535373 (AFR)
Linked Data - NCBI & NCI
dbSNP:
4491792
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.16760180T>C , CM000682.2:g.16760180T>C
GRCh38
NC_000020.10:g.16740825T>C , CM000682.1:g.16740825T>C
GRCh37
NC_000020.9:g.16688825T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000490148.1:n.102-4142T>C
Search 100 bp 5'
Search 100 bp 3'