Canonical Allele Identifier: CA5999506
Gene: OR5M9 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.56463089C>T
GRCh37 chr11:g.56230565C>T
Revel Score:
ENST00000279791 (MANE Select) 0.021
gnomAD v2:
11:56230565 C / T
gnomAD v3:
11:56463089 C / T
gnomAD v4:
chr11-56463089-C-T
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
ClinVar Allele:
2336628
ClinVar RCV:
RCV004196873
ClinVar Variation:
2352599
dbSNP:
777835699
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.56463089C>T , CM000673.2:g.56463089C>T GRCh38
NC_000011.9:g.56230565C>T , CM000673.1:g.56230565C>T GRCh37
NC_000011.8:g.55987141C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641310.1:c.628G>A ENSP00000493052.1:p.Val210Ile
ENST00000641599.1:c.*291G>A ENSP00000493241.1:n.*291G>A
ENST00000279791.1:c.313G>A MANE Select ENSP00000279791.1:p.Val105Ile
NM_001004743.1:c.313G>A MANE Select NP_001004743.1:p.Val105Ile
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