Canonical Allele Identifier: CA2424881840
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401333G= , CM000685.2:g.38401333G= GRCh38
NC_000023.10:g.38260586G= , CM000685.1:g.38260586G= GRCh37
NC_000023.9:g.38145530G= NCBI36
NG_008471.1:g.53851G=

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.445G= MANE Select ENSP00000039007.4:p.Asp149=
ENST00000643344.1:c.*195G= ENSP00000496606.1:n.*195G=
ENST00000039007.4:c.445G= ENSP00000039007.4:p.Asp149=
ENST00000465127.1:c.172-264788G= ENSP00000417050.1:n.172-264788G=
ENST00000488812.1:n.482G=
NM_000531.5:c.445G= NP_000522.3:p.Asp149=
XM_017029556.1:c.445G= XP_016885045.1:p.Asp149=
NM_000531.6:c.445G= MANE Select NP_000522.3:p.Asp149=