Canonical Allele Identifier: CA5992643
Gene: OR5L1 HGNC NCBI

Linked Data

dbSNP Id: rs764595737
ExAC: 11:55579069 C / T
gnomAD v2: 11-55579069-C-T
gnomAD v4: 11-55811593-C-T
MyVariant Identifiers: chr11:g.55579069C>T (hg19) chr11:g.55811593C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.55811593C>T , CM000673.2:g.55811593C>T GRCh38
NC_000011.9:g.55579069C>T , CM000673.1:g.55579069C>T GRCh37
NC_000011.8:g.55335645C>T NCBI36
NG_052620.1:g.5227C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000625203.2:c.127C>T MANE Select ENSP00000485319.1:p.Leu43=
ENST00000333973.3:c.127C>T ENSP00000335529.2:p.Leu43=
ENST00000623450.1:c.127C>T ENSP00000485509.1:p.Leu43=
ENST00000625203.1:c.127C>T ENSP00000485319.1:p.Leu43=
NM_001004738.1:c.127C>T NP_001004738.1:p.Leu43=
NM_001004738.2:c.127C>T MANE Select NP_001004738.1:p.Leu43=
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