Canonical Allele Identifier: CA379234122
Gene: OR52I1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.4594352T>C
GRCh37 chr11:g.4615582T>C
Revel Score:
ENST00000450052 0.144
ENST00000530443 (MANE Select) 0.144
gnomAD v4:
chr11-4594352-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV004163727
ClinVar Variation:
2318019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4594352T>C , CM000673.2:g.4594352T>C GRCh38
NC_000011.9:g.4615582T>C , CM000673.1:g.4615582T>C GRCh37
NC_000011.8:g.4572158T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000530443.4:c.314T>C MANE Select ENSP00000436453.1:p.Met105Thr
ENST00000530443.3:c.314T>C ENSP00000436453.1:p.Met105Thr
ENST00000450052.3:c.389T>C ENSP00000409094.3:p.Met130Thr
ENST00000530443.2:c.314T>C ENSP00000436453.1:p.Met105Thr
NM_001005169.1:c.314T>C MANE Select NP_001005169.1:p.Met105Thr
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