Canonical Allele Identifier: CA5992760
Gene: OR5L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2212453
ClinVar RCV Id: RCV004082011
dbSNP Id: rs769237257
ExAC: 11:55579504 G / A
gnomAD v2: 11-55579504-G-A
gnomAD v3: 11-55812028-G-A
gnomAD v4: 11-55812028-G-A
MyVariant Identifiers: chr11:g.55579504G>A (hg19) chr11:g.55812028G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.55812028G>A , CM000673.2:g.55812028G>A GRCh38
NC_000011.9:g.55579504G>A , CM000673.1:g.55579504G>A GRCh37
NC_000011.8:g.55336080G>A NCBI36
NG_052620.1:g.5662G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000625203.2:c.562G>A MANE Select ENSP00000485319.1:p.Ala188Thr
ENST00000333973.3:c.562G>A ENSP00000335529.2:p.Ala188Thr
ENST00000623450.1:c.562G>A ENSP00000485509.1:p.Ala188Thr
ENST00000625203.1:c.562G>A ENSP00000485319.1:p.Ala188Thr
NM_001004738.1:c.562G>A NP_001004738.1:p.Ala188Thr
NM_001004738.2:c.562G>A MANE Select NP_001004738.1:p.Ala188Thr
Search 100 bp 5'
Search 100 bp 3'