Canonical Allele Identifier: CA2424870867
Gene: OTC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367469C= , CM000685.2:g.38367469C= GRCh38
NC_000023.10:g.38226722C= , CM000685.1:g.38226722C= GRCh37
NC_000023.9:g.38111666C= NCBI36
NG_008471.1:g.19987C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.216+40C= MANE Select ENSP00000039007.4:n.216+40C=
ENST00000643344.1:c.216+40C= ENSP00000496606.1:n.216+40C=
ENST00000039007.4:c.216+40C= ENSP00000039007.4:n.216+40C=
ENST00000465127.1:c.172-298652C= ENSP00000417050.1:n.172-298652C=
ENST00000488812.1:n.308+40C=
NM_000531.5:c.216+40C= NP_000522.3:n.216+40C=
XM_017029556.1:c.216+40C= XP_016885045.1:n.216+40C=
NM_000531.6:c.216+40C= MANE Select NP_000522.3:n.216+40C=
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