Canonical Allele Identifier: CA2424881820
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401295A= , CM000685.2:g.38401295A= GRCh38
NC_000023.10:g.38260548A= , CM000685.1:g.38260548A= GRCh37
NC_000023.9:g.38145492A= NCBI36
NG_008471.1:g.53813A=

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.407A= MANE Select ENSP00000039007.4:p.Asp136=
ENST00000643344.1:c.*157A= ENSP00000496606.1:n.*157A=
ENST00000039007.4:c.407A= ENSP00000039007.4:p.Asp136=
ENST00000465127.1:c.172-264826A= ENSP00000417050.1:n.172-264826A=
ENST00000488812.1:n.444A=
NM_000531.5:c.407A= NP_000522.3:p.Asp136=
XM_017029556.1:c.407A= XP_016885045.1:p.Asp136=
NM_000531.6:c.407A= MANE Select NP_000522.3:p.Asp136=