Canonical Allele Identifier: CA2424881902
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401445G= , CM000685.2:g.38401445G= GRCh38
NC_000023.10:g.38260698G= , CM000685.1:g.38260698G= GRCh37
NC_000023.9:g.38145642G= NCBI36
NG_008471.1:g.53963G=

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.540+17G= MANE Select ENSP00000039007.4:n.540+17G=
ENST00000643344.1:c.*290+17G= ENSP00000496606.1:n.*290+17G=
ENST00000039007.4:c.540+17G= ENSP00000039007.4:n.540+17G=
ENST00000465127.1:c.172-264676G= ENSP00000417050.1:n.172-264676G=
ENST00000488812.1:n.577+17G=
NM_000531.5:c.540+17G= NP_000522.3:n.540+17G=
XM_017029556.1:c.540+17G= XP_016885045.1:n.540+17G=
NM_000531.6:c.540+17G= MANE Select NP_000522.3:n.540+17G=