Canonical Allele Identifier: CA6614234
Gene: OR6C68 HGNC NCBI
OR6C70 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.55492723A>G
GRCh37 chr12:g.55886507A>G
Revel Score:
ENST00000379662 0.258
ENST00000548615 (MANE Select) 0.258
gnomAD v2:
12:55886507 A / G
gnomAD v3:
12:55492723 A / G
gnomAD v4:
chr12-55492723-A-G
Joint Max Group AF 0.00011208 (AFR)
Genomes Max Group AF 0.00007892 (AFR)
Exomes Max Group AF 0.0000975 (AFR)
ClinVar RCV:
RCV004224795
ClinVar Variation:
2387936
dbSNP:
141646704
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.55492723A>G , CM000674.2:g.55492723A>G GRCh38
NC_000012.11:g.55886507A>G , CM000674.1:g.55886507A>G GRCh37
NC_000012.10:g.54172774A>G NCBI36
NG_034004.1:g.5346A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000548615.1:c.346A>G (OR6C68) MANE Select ENSP00000448811.1:p.Met116Val
NM_001005519.2:c.346A>G (OR6C68) MANE Select NP_001005519.2:p.Met116Val
XM_011538339.1:c.-80+368T>C (OR6C70) XP_011536641.1:n.-80+368T>C
XM_011538340.1:c.-80+368T>C (OR6C70) XP_011536642.1:n.-80+368T>C
XM_011538341.1:c.-80+368T>C (OR6C70) XP_011536643.1:n.-80+368T>C
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