Canonical Allele Identifier: CA2424884277
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408748G= , CM000685.2:g.38408748G= GRCh38
NC_000023.10:g.38268001G= , CM000685.1:g.38268001G= GRCh37
NC_000023.9:g.38152945G= NCBI36
NG_008471.1:g.61266G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.670G= MANE Select ENSP00000039007.4:p.Glu224=
ENST00000643344.1:c.*420G= ENSP00000496606.1:n.*420G=
ENST00000039007.4:c.670G= ENSP00000039007.4:p.Glu224=
ENST00000465127.1:c.172-257373G= ENSP00000417050.1:n.172-257373G=
NM_000531.5:c.670G= NP_000522.3:p.Glu224=
XM_017029556.1:c.670G= XP_016885045.1:p.Glu224=
NM_000531.6:c.670G= MANE Select NP_000522.3:p.Glu224=