Canonical Allele Identifier: CA5999368
Gene: OR5M9 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.56462543T>A
GRCh37 chr11:g.56230019T>A
Revel Score:
ENST00000279791 (MANE Select) 0.434
gnomAD v2:
11:56230019 T / A
gnomAD v4:
chr11-56462543-T-A
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV004187334
ClinVar Variation:
2339570
dbSNP:
757151273
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.56462543T>A , CM000673.2:g.56462543T>A GRCh38
NC_000011.9:g.56230019T>A , CM000673.1:g.56230019T>A GRCh37
NC_000011.8:g.55986595T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641310.1:c.1174A>T ENSP00000493052.1:p.Ile392Phe
ENST00000641599.1:c.*837A>T ENSP00000493241.1:n.*837A>T
ENST00000279791.1:c.859A>T MANE Select ENSP00000279791.1:p.Ile287Phe
NM_001004743.1:c.859A>T MANE Select NP_001004743.1:p.Ile287Phe
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