Canonical Allele Identifier: CA2424884329
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408859G= , CM000685.2:g.38408859G= GRCh38
NC_000023.10:g.38268112G= , CM000685.1:g.38268112G= GRCh37
NC_000023.9:g.38153056G= NCBI36
NG_008471.1:g.61377G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.718-17G= MANE Select ENSP00000039007.4:n.718-17G=
ENST00000643344.1:c.*468-17G= ENSP00000496606.1:n.*468-17G=
ENST00000039007.4:c.718-17G= ENSP00000039007.4:n.718-17G=
ENST00000465127.1:c.172-257262G= ENSP00000417050.1:n.172-257262G=
NM_000531.5:c.718-17G= NP_000522.3:n.718-17G=
XM_017029556.1:c.718-17G= XP_016885045.1:n.718-17G=
NM_000531.6:c.718-17G= MANE Select NP_000522.3:n.718-17G=