Canonical Allele Identifier: CA6539123
Gene: OR8S1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.48525803C>T
GRCh37 chr12:g.48919586C>T
Revel Score:
ENST00000310194 0.192
gnomAD v2:
12:48919586 C / T
gnomAD v3:
12:48525803 C / T
gnomAD v4:
chr12-48525803-C-T
Joint Max Group AF 0.00000803 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
ClinVar RCV:
RCV004080679
ClinVar Variation:
2216764
dbSNP:
748347369
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48525803C>T , CM000674.2:g.48525803C>T GRCh38
NC_000012.11:g.48919586C>T , CM000674.1:g.48919586C>T GRCh37
NC_000012.10:g.47205853C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641651.1:c.172C>T MANE Select ENSP00000493379.1:p.Pro58Ser
ENST00000310194.1:c.172C>T ENSP00000310632.1:p.Pro58Ser
ENST00000551654.1:n.184-2069C>T
NM_001005203.2:c.172C>T NP_001005203.2:p.Pro58Ser
NM_001390849.1:c.172C>T MANE Select NP_001377778.1:p.Pro58Ser
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