Canonical Allele Identifier: CA2424871827
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38370257T= , CM000685.2:g.38370257T= GRCh38
NC_000023.10:g.38229510T= , CM000685.1:g.38229510T= GRCh37
NC_000023.9:g.38114454T= NCBI36
NG_008471.1:g.22775T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+380T= MANE Select ENSP00000039007.4:n.298+380T=
ENST00000643344.1:c.298+380T= ENSP00000496606.1:n.298+380T=
ENST00000039007.4:c.298+380T= ENSP00000039007.4:n.298+380T=
ENST00000465127.1:c.172-295864T= ENSP00000417050.1:n.172-295864T=
ENST00000488812.1:n.353+417T=
NM_000531.5:c.298+380T= NP_000522.3:n.298+380T=
XM_017029556.1:c.298+380T= XP_016885045.1:n.298+380T=
NM_000531.6:c.298+380T= MANE Select NP_000522.3:n.298+380T=