Canonical Allele Identifier: CA2424881787
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401226A= , CM000685.2:g.38401226A= GRCh38
NC_000023.10:g.38260479A= , CM000685.1:g.38260479A= GRCh37
NC_000023.9:g.38145423A= NCBI36
NG_008471.1:g.53744A=

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.387-49A= MANE Select ENSP00000039007.4:n.387-49A=
ENST00000643344.1:c.*137-49A= ENSP00000496606.1:n.*137-49A=
ENST00000039007.4:c.387-49A= ENSP00000039007.4:n.387-49A=
ENST00000465127.1:c.172-264895A= ENSP00000417050.1:n.172-264895A=
ENST00000488812.1:n.424-49A=
NM_000531.5:c.387-49A= NP_000522.3:n.387-49A=
XM_017029556.1:c.387-49A= XP_016885045.1:n.387-49A=
NM_000531.6:c.387-49A= MANE Select NP_000522.3:n.387-49A=