Canonical Allele Identifier: CA2424870819
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367356T= , CM000685.2:g.38367356T= GRCh38
NC_000023.10:g.38226609T= , CM000685.1:g.38226609T= GRCh37
NC_000023.9:g.38111553T= NCBI36
NG_008471.1:g.19874T=

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.143T= MANE Select ENSP00000039007.4:p.Phe48=
ENST00000643344.1:c.143T= ENSP00000496606.1:p.Phe48=
ENST00000039007.4:c.143T= ENSP00000039007.4:p.Phe48=
ENST00000465127.1:c.172-298765T= ENSP00000417050.1:n.172-298765T=
ENST00000488812.1:n.235T=
NM_000531.5:c.143T= NP_000522.3:p.Phe48=
XM_017029556.1:c.143T= XP_016885045.1:p.Phe48=
NM_000531.6:c.143T= MANE Select NP_000522.3:p.Phe48=