Canonical Allele Identifier: CA10385783
Gene: OTC HGNC NCBI

Linked Data

dbSNP Id: rs141273695

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367291G>A , CM000685.2:g.38367291G>A GRCh38
NC_000023.10:g.38226544G>A , CM000685.1:g.38226544G>A GRCh37
NC_000023.9:g.38111488G>A NCBI36
NG_008471.1:g.19809G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78G>A MANE Select ENSP00000039007.4:p.Arg26=
ENST00000643344.1:c.78G>A ENSP00000496606.1:p.Arg26=
ENST00000039007.4:c.78G>A ENSP00000039007.4:p.Arg26=
ENST00000465127.1:c.172-298830G>A ENSP00000417050.1:n.172-298830G>A
ENST00000488812.1:n.170G>A
NM_000531.5:c.78G>A NP_000522.3:p.Arg26=
XM_017029556.1:c.78G>A XP_016885045.1:p.Arg26=
NM_000531.6:c.78G>A MANE Select NP_000522.3:p.Arg26=