Canonical Allele Identifier: CA2424884388
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409005G= , CM000685.2:g.38409005G= GRCh38
NC_000023.10:g.38268258G= , CM000685.1:g.38268258G= GRCh37
NC_000023.9:g.38153202G= NCBI36
NG_008471.1:g.61523G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.847G= MANE Select ENSP00000039007.4:p.Gly283=
ENST00000643344.1:c.*597G= ENSP00000496606.1:n.*597G=
ENST00000039007.4:c.847G= ENSP00000039007.4:p.Gly283=
ENST00000465127.1:c.172-257116G= ENSP00000417050.1:n.172-257116G=
NM_000531.5:c.847G= NP_000522.3:p.Gly283=
XM_017029556.1:c.847G= XP_016885045.1:p.Gly283=
NM_000531.6:c.847G= MANE Select NP_000522.3:p.Gly283=