Canonical Allele Identifier: CA6612590
Gene: OR6C6 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.55295193C>T
GRCh37 chr12:g.55688977C>T
Revel Score:
ENST00000358433 (MANE Select) 0.223
gnomAD v2:
12:55688977 C / T
gnomAD v4:
chr12-55295193-C-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV004132279
ClinVar Variation:
2283360
dbSNP:
780831902
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55295193C>T , CM000674.2:g.55295193C>T GRCh38
NC_000012.11:g.55688977C>T , CM000674.1:g.55688977C>T GRCh37
NC_000012.10:g.53975244C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000358433.3:c.40G>A MANE Select ENSP00000351211.2:p.Gly14Arg
ENST00000358433.2:c.40G>A ENSP00000351211.2:p.Gly14Arg
NM_001005493.1:c.40G>A NP_001005493.1:p.Gly14Arg
NM_001005493.2:c.40G>A MANE Select NP_001005493.1:p.Gly14Arg
Search 100 bp 5'
Search 100 bp 3'