Canonical Allele Identifier: CA2424885253
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411968C= , CM000685.2:g.38411968C= GRCh38
NC_000023.10:g.38271221C= , CM000685.1:g.38271221C= GRCh37
NC_000023.9:g.38156165C= NCBI36
NG_008471.1:g.64486C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.974C= MANE Select ENSP00000039007.4:p.Pro325=
ENST00000643344.1:c.*724C= ENSP00000496606.1:n.*724C=
ENST00000039007.4:c.974C= ENSP00000039007.4:p.Pro325=
ENST00000465127.1:c.172-254153C= ENSP00000417050.1:n.172-254153C=
NM_000531.5:c.974C= NP_000522.3:p.Pro325=
NM_000531.6:c.974C= MANE Select NP_000522.3:p.Pro325=