Canonical Allele Identifier: CA1505136

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.248488787A>G , CM000663.2:g.248488787A>G GRCh38
NC_000001.10:g.248652088A>G , CM000663.1:g.248652088A>G GRCh37
NC_000001.9:g.246718711A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001004697.2:c.199A>G (OR2T5) MANE Select NP_001004697.1:p.Ile67Val
ENST00000641363.1:c.199A>G (OR2T5) MANE Select ENSP00000493066.1:p.Ile67Val
NM_001004697.1:c.199A>G (OR2T5) NP_001004697.1:p.Ile67Val
ENST00000366473.3:c.199A>G (OR2T5) ENSP00000355429.2:p.Ile67Val
XR_001738575.1:n.144-3303T>C
XR_002958498.1:n.1101-3303T>C
XR_949139.1:n.77+39395A>G (OR2T2)
XR_949140.1:n.137-3303T>C (OR14I1)
XR_949141.1:n.1089-3303T>C (OR14I1)
XR_949142.1:n.144-3303T>C (OR14I1)
XR_949143.1:n.137-3303T>C (OR14I1)
XR_949371.1:n.63+43118A>G