Canonical Allele Identifier: CA2424871663
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369819G= , CM000685.2:g.38369819G= GRCh38
NC_000023.10:g.38229072G= , CM000685.1:g.38229072G= GRCh37
NC_000023.9:g.38114016G= NCBI36
NG_008471.1:g.22337G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.240G= MANE Select ENSP00000039007.4:p.Lys80=
ENST00000643344.1:c.240G= ENSP00000496606.1:p.Lys80=
ENST00000039007.4:c.240G= ENSP00000039007.4:p.Lys80=
ENST00000465127.1:c.172-296302G= ENSP00000417050.1:n.172-296302G=
ENST00000488812.1:n.332G=
NM_000531.5:c.240G= NP_000522.3:p.Lys80=
XM_017029556.1:c.240G= XP_016885045.1:p.Lys80=
NM_000531.6:c.240G= MANE Select NP_000522.3:p.Lys80=