Canonical Allele Identifier: CA232167

Linked Data

ClinVar Variation Id: 91923
ClinVar RCV Id: RCV000122480
dbSNP Id: rs386352342

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.58119227T>C , CM000673.2:g.58119227T>C GRCh38
NC_000011.9:g.57886699T>C , CM000673.1:g.57886699T>C GRCh37
NC_000011.8:g.57643275T>C NCBI36
NG_053135.1:g.5218A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000641439.1:c.218A>G (OR9I1) MANE Select ENSP00000493370.1:p.Tyr73Cys
ENST00000641478.1:c.218A>G (OR9I1) ENSP00000493104.1:p.Tyr73Cys
ENST00000302610.1:c.218A>G (OR9I1) ENSP00000302606.1:p.Tyr73Cys
ENST00000335397.3:c.-14-60204T>C (OR9Q1) MANE Select ENSP00000334934.3:n.-14-60204T>C
NM_001005211.1:c.218A>G (OR9I1) NP_001005211.1:p.Tyr73Cys
NM_001005212.3:c.-14-60204T>C (OR9Q1) NP_001005212.1:n.-14-60204T>C
NM_001005212.4:c.-14-60204T>C (OR9Q1) MANE Select NP_001005212.1:n.-14-60204T>C
NM_001005211.2:c.218A>G (OR9I1) MANE Select NP_001005211.1:p.Tyr73Cys