Canonical Allele Identifier: CA2581717491

Gene: KMO OPN3

Genomic Alleles

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

Transcript Alleles

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