Canonical Allele Identifier: CA412722551
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408907C>A , CM000685.2:g.38408907C>A GRCh38
NC_000023.10:g.38268160C>A , CM000685.1:g.38268160C>A GRCh37
NC_000023.9:g.38153104C>A NCBI36
NG_008471.1:g.61425C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.749C>A MANE Select ENSP00000039007.4:p.Pro250Gln
ENST00000643344.1:c.*499C>A ENSP00000496606.1:n.*499C>A
ENST00000039007.4:c.749C>A ENSP00000039007.4:p.Pro250Gln
ENST00000465127.1:c.172-257214C>A ENSP00000417050.1:n.172-257214C>A
NM_000531.5:c.749C>A NP_000522.3:p.Pro250Gln
XM_017029556.1:c.749C>A XP_016885045.1:p.Pro250Gln
NM_000531.6:c.749C>A MANE Select NP_000522.3:p.Pro250Gln