Canonical Allele Identifier: CA2424881901
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401440T= , CM000685.2:g.38401440T= GRCh38
NC_000023.10:g.38260693T= , CM000685.1:g.38260693T= GRCh37
NC_000023.9:g.38145637T= NCBI36
NG_008471.1:g.53958T=

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.540+12T= MANE Select ENSP00000039007.4:n.540+12T=
ENST00000643344.1:c.*290+12T= ENSP00000496606.1:n.*290+12T=
ENST00000039007.4:c.540+12T= ENSP00000039007.4:n.540+12T=
ENST00000465127.1:c.172-264681T= ENSP00000417050.1:n.172-264681T=
ENST00000488812.1:n.577+12T=
NM_000531.5:c.540+12T= NP_000522.3:n.540+12T=
XM_017029556.1:c.540+12T= XP_016885045.1:n.540+12T=
NM_000531.6:c.540+12T= MANE Select NP_000522.3:n.540+12T=