Canonical Allele Identifier: CA1139849642
Community Standard Title: NM_003679.5(KMO):c.*3176A=

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_003679.5:c.*3176A= (KMO) MANE Select NP_003670.2:n.*3176A=
NM_014322.3:c.946-638T= (OPN3) MANE Select NP_055137.2:n.946-638T=
ENST00000366554.3:c.946-638T= (OPN3) MANE Select ENSP00000355512.2:n.946-638T=
ENST00000366559.9:c.*3176A= (KMO) MANE Select ENSP00000355517.4:n.*3176A=
NM_003679.4:c.*3176A= (KMO) NP_003670.2:n.*3176A=
NM_014322.2:c.946-638T= (OPN3) NP_055137.2:n.946-638T=
ENST00000366554.2:c.946-638T= (OPN3) ENSP00000355512.2:n.946-638T=
ENST00000366557.8:c.*3176A= (KMO) ENSP00000355515.4:n.*3176A=
ENST00000366559.8:c.*3176A= (KMO) ENSP00000355517.4:n.*3176A=
ENST00000462265.5:n.625+2417T= (OPN3)
ENST00000463155.5:n.327-638T= (OPN3)
ENST00000469376.5:n.872-638T= (OPN3)
ENST00000478849.1:n.787-638T= (OPN3)
ENST00000490673.5:n.727-638T= (OPN3)