Canonical Allele Identifier: CA5992633
Gene: OR5L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3206309
ClinVar RCV Id: RCV004499708
dbSNP Id: rs143594095
ExAC: 11:55579043 T / C
gnomAD v2: 11-55579043-T-C
gnomAD v3: 11-55811567-T-C
gnomAD v4: 11-55811567-T-C
MyVariant Identifiers: chr11:g.55579043T>C (hg19) chr11:g.55811567T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.55811567T>C , CM000673.2:g.55811567T>C GRCh38
NC_000011.9:g.55579043T>C , CM000673.1:g.55579043T>C GRCh37
NC_000011.8:g.55335619T>C NCBI36
NG_052620.1:g.5201T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000625203.2:c.101T>C MANE Select ENSP00000485319.1:p.Ile34Thr
ENST00000333973.3:c.101T>C ENSP00000335529.2:p.Ile34Thr
ENST00000623450.1:c.101T>C ENSP00000485509.1:p.Ile34Thr
ENST00000625203.1:c.101T>C ENSP00000485319.1:p.Ile34Thr
NM_001004738.1:c.101T>C NP_001004738.1:p.Ile34Thr
NM_001004738.2:c.101T>C MANE Select NP_001004738.1:p.Ile34Thr
Search 100 bp 5'
Search 100 bp 3'