Canonical Allele Identifier: CA385162916
Gene: OR6C1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.55320928T>C
GRCh37 chr12:g.55714712T>C
Revel Score:
ENST00000379668 0.103
ClinVar Allele:
2230251
ClinVar RCV:
RCV004099870
ClinVar Variation:
2243417
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55320928T>C , CM000674.2:g.55320928T>C GRCh38
NC_000012.11:g.55714712T>C , CM000674.1:g.55714712T>C GRCh37
NC_000012.10:g.54000979T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000642104.1:c.329T>C MANE Select ENSP00000492978.1:p.Phe110Ser
ENST00000379668.3:c.329T>C ENSP00000368990.2:p.Phe110Ser
NM_001005182.1:c.329T>C NP_001005182.1:p.Phe110Ser
NM_001005182.2:c.329T>C MANE Select NP_001005182.1:p.Phe110Ser
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