Canonical Allele Identifier: CA2424882730
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403695G= , CM000685.2:g.38403695G= GRCh38
NC_000023.10:g.38262948G= , CM000685.1:g.38262948G= GRCh37
NC_000023.9:g.38147892G= NCBI36
NG_008471.1:g.56213G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.618G= MANE Select ENSP00000039007.4:p.Met206=
ENST00000643344.1:c.*368G= ENSP00000496606.1:n.*368G=
ENST00000039007.4:c.618G= ENSP00000039007.4:p.Met206=
ENST00000465127.1:c.172-262426G= ENSP00000417050.1:n.172-262426G=
NM_000531.5:c.618G= NP_000522.3:p.Met206=
XM_017029556.1:c.618G= XP_016885045.1:p.Met206=
NM_000531.6:c.618G= MANE Select NP_000522.3:p.Met206=