Canonical Allele Identifier: CA13454240
Gene: OR52K3P HGNC NCBI
COSMIC:
COSN15322282 (not active)
COSN19622574 (not active)
COSN20281907 (not active)
MyVariant.info:
GRCh38 chr11:g.4475616C>T
GRCh37 chr11:g.4496846C>T
gnomAD v2:
11:4496846 C / T
gnomAD v3:
11:4475616 C / T
gnomAD v4:
chr11-4475616-C-T
Joint Max Group AF 0.33770106 (EAS)
Genomes Max Group AF 0.35115115 (EAS)
Exomes Max Group AF 0.33313378 (EAS)
dbSNP:
2278170
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.4475616C>T , CM000673.2:g.4475616C>T GRCh38
NC_000011.9:g.4496846C>T , CM000673.1:g.4496846C>T GRCh37
NC_000011.8:g.4453422C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641797.3:n.1415C>T
ENST00000685350.1:n.540+6073C>T
ENST00000690302.1:n.380-44047C>T
ENST00000690343.1:n.1220C>T
ENST00000691418.1:n.366-43131C>T
ENST00000692525.1:n.1358C>T
ENST00000693118.1:n.366-28492C>T
ENST00000641797.2:n.1415C>T
ENST00000531655.1:n.804C>T
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