Canonical Allele Identifier: CA2424881843
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401337C= , CM000685.2:g.38401337C= GRCh38
NC_000023.10:g.38260590C= , CM000685.1:g.38260590C= GRCh37
NC_000023.9:g.38145534C= NCBI36
NG_008471.1:g.53855C=

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.449C= MANE Select ENSP00000039007.4:p.Thr150=
ENST00000643344.1:c.*199C= ENSP00000496606.1:n.*199C=
ENST00000039007.4:c.449C= ENSP00000039007.4:p.Thr150=
ENST00000465127.1:c.172-264784C= ENSP00000417050.1:n.172-264784C=
ENST00000488812.1:n.486C=
NM_000531.5:c.449C= NP_000522.3:p.Thr150=
XM_017029556.1:c.449C= XP_016885045.1:p.Thr150=
NM_000531.6:c.449C= MANE Select NP_000522.3:p.Thr150=