Canonical Allele Identifier: CA16084756
Gene: OPN3 HGNC NCBI
KMO HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.241595329A>G
GRCh37 chr1:g.241758631A>G
gnomAD v2:
1:241758631 A / G
gnomAD v3:
1:241595329 A / G
gnomAD v4:
chr1-241595329-A-G
Joint Max Group AF 0.40840451 (EAS)
Genomes Max Group AF 0.40840451 (EAS)
Exomes Max Group AF 0.16164132 (NFE)
dbSNP:
1053183
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241595329A>G , CM000663.2:g.241595329A>G GRCh38
NC_000001.10:g.241758631A>G , CM000663.1:g.241758631A>G GRCh37
NC_000001.9:g.239825254A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366554.3:c.946-638T>C (OPN3) MANE Select ENSP00000355512.2:n.946-638T>C
ENST00000366559.9:c.*3176A>G (KMO) MANE Select ENSP00000355517.4:n.*3176A>G
ENST00000366554.2:c.946-638T>C (OPN3) ENSP00000355512.2:n.946-638T>C
ENST00000366557.8:c.*3176A>G (KMO) ENSP00000355515.4:n.*3176A>G
ENST00000366559.8:c.*3176A>G (KMO) ENSP00000355517.4:n.*3176A>G
ENST00000462265.5:n.625+2417T>C (OPN3)
ENST00000463155.5:n.327-638T>C (OPN3)
ENST00000469376.5:n.872-638T>C (OPN3)
ENST00000478849.1:n.787-638T>C (OPN3)
ENST00000490673.5:n.727-638T>C (OPN3)
NM_003679.4:c.*3176A>G (KMO) NP_003670.2:n.*3176A>G
NM_014322.2:c.946-638T>C (OPN3) NP_055137.2:n.946-638T>C
NM_003679.5:c.*3176A>G (KMO) MANE Select NP_003670.2:n.*3176A>G
NM_014322.3:c.946-638T>C (OPN3) MANE Select NP_055137.2:n.946-638T>C
Search 100 bp 5'
Search 100 bp 3'