Canonical Allele Identifier: CA2424885193
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411848C= , CM000685.2:g.38411848C= GRCh38
NC_000023.10:g.38271101C= , CM000685.1:g.38271101C= GRCh37
NC_000023.9:g.38156045C= NCBI36
NG_008471.1:g.64366C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.868-14C= MANE Select ENSP00000039007.4:n.868-14C=
ENST00000643344.1:c.*618-14C= ENSP00000496606.1:n.*618-14C=
ENST00000039007.4:c.868-14C= ENSP00000039007.4:n.868-14C=
ENST00000465127.1:c.172-254273C= ENSP00000417050.1:n.172-254273C=
NM_000531.5:c.868-14C= NP_000522.3:n.868-14C=
XM_017029556.1:c.923C= XP_016885045.1:p.Ser308=
NM_000531.6:c.868-14C= MANE Select NP_000522.3:n.868-14C=