Canonical Allele Identifier: CA40363107
Gene: KMO HGNC NCBI
OPN3 HGNC NCBI
dbSNP:
1053221
gnomAD v2:
1:241755567 T / C
gnomAD v3:
1:241592265 T / C
gnomAD v4:
chr1-241592265-T-C
Joint Max Group AF 0.2196909 (EAS)
Genomes Max Group AF 0.21134949 (EAS)
Exomes Max Group AF 0.21965035 (EAS)
MyVariant.info:
GRCh38 chr1:g.241592265T>C
GRCh37 chr1:g.241755567T>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.241592265T>C , CM000663.2:g.241592265T>C GRCh38
NC_000001.10:g.241755567T>C , CM000663.1:g.241755567T>C GRCh37
NC_000001.9:g.239822190T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366559.9:c.*112T>C (KMO) MANE Select ENSP00000355517.4:n.*112T>C
ENST00000366555.5:c.513+116T>C (KMO)
ENST00000366557.8:c.*112T>C (KMO) ENSP00000355515.4:n.*112T>C
ENST00000366558.7:c.*112T>C (KMO) ENSP00000355516.3:n.*112T>C
ENST00000366559.8:c.*112T>C (KMO) ENSP00000355517.4:n.*112T>C
ENST00000462265.5:n.626-145A>G (OPN3)
NM_003679.4:c.*112T>C (KMO) NP_003670.2:n.*112T>C
XM_005273337.1:c.*112T>C (KMO) XP_005273394.1:n.*112T>C
XM_005273338.2:c.*112T>C (KMO) XP_005273395.1:n.*112T>C
XM_005273338.3:c.*112T>C (KMO) XP_005273395.1:n.*112T>C
XM_017002649.1:c.*112T>C (KMO) XP_016858138.1:n.*112T>C
XM_017002650.1:c.*112T>C (KMO) XP_016858139.1:n.*112T>C
NM_003679.5:c.*112T>C (KMO) MANE Select NP_003670.2:n.*112T>C
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