Canonical Allele Identifier: CA5990339
Gene: OR4A15 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.55368743C>T
GRCh37 chr11:g.55136219C>T
Revel Score:
ENST00000314706 0.021
gnomAD v2:
11:55136219 C / T
gnomAD v3:
11:55368743 C / T
gnomAD v4:
chr11-55368743-C-T
Joint Max Group AF 0.06101268 (NFE)
Genomes Max Group AF 0.06012499 (NFE)
Exomes Max Group AF 0.06098268 (NFE)
dbSNP:
7927370
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.55368743C>T , CM000673.2:g.55368743C>T GRCh38
NC_000011.9:g.55136219C>T , CM000673.1:g.55136219C>T GRCh37
NC_000011.8:g.54892795C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641526.1:c.770C>T MANE Select ENSP00000493060.1:p.Ala257Val
ENST00000314706.3:c.860C>T ENSP00000325065.3:p.Ala287Val
NM_001005275.1:c.860C>T NP_001005275.1:p.Ala287Val
NM_001005275.2:c.770C>T MANE Select NP_001005275.2:p.Ala257Val
Search 100 bp 5'
Search 100 bp 3'