Canonical Allele Identifier: CA2424885258
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411981C= , CM000685.2:g.38411981C= GRCh38
NC_000023.10:g.38271234C= , CM000685.1:g.38271234C= GRCh37
NC_000023.9:g.38156178C= NCBI36
NG_008471.1:g.64499C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.987C= MANE Select ENSP00000039007.4:p.Asn329=
ENST00000643344.1:c.*737C= ENSP00000496606.1:n.*737C=
ENST00000039007.4:c.987C= ENSP00000039007.4:p.Asn329=
ENST00000465127.1:c.172-254140C= ENSP00000417050.1:n.172-254140C=
NM_000531.5:c.987C= NP_000522.3:p.Asn329=
NM_000531.6:c.987C= MANE Select NP_000522.3:p.Asn329=
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