Canonical Allele Identifier: CA2424870904
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367577A= , CM000685.2:g.38367577A= GRCh38
NC_000023.10:g.38226830A= , CM000685.1:g.38226830A= GRCh37
NC_000023.9:g.38111774A= NCBI36
NG_008471.1:g.20095A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.216+148A= MANE Select ENSP00000039007.4:n.216+148A=
ENST00000643344.1:c.216+148A= ENSP00000496606.1:n.216+148A=
ENST00000039007.4:c.216+148A= ENSP00000039007.4:n.216+148A=
ENST00000465127.1:c.172-298544A= ENSP00000417050.1:n.172-298544A=
ENST00000488812.1:n.308+148A=
NM_000531.5:c.216+148A= NP_000522.3:n.216+148A=
XM_017029556.1:c.216+148A= XP_016885045.1:n.216+148A=
NM_000531.6:c.216+148A= MANE Select NP_000522.3:n.216+148A=