Canonical Allele Identifier: CA2424882669
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403562C= , CM000685.2:g.38403562C= GRCh38
NC_000023.10:g.38262815C= , CM000685.1:g.38262815C= GRCh37
NC_000023.9:g.38147759C= NCBI36
NG_008471.1:g.56080C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.541-56C= MANE Select ENSP00000039007.4:n.541-56C=
ENST00000643344.1:c.*291-56C= ENSP00000496606.1:n.*291-56C=
ENST00000039007.4:c.541-56C= ENSP00000039007.4:n.541-56C=
ENST00000465127.1:c.172-262559C= ENSP00000417050.1:n.172-262559C=
ENST00000488812.1:n.578-56C=
NM_000531.5:c.541-56C= NP_000522.3:n.541-56C=
XM_017029556.1:c.541-56C= XP_016885045.1:n.541-56C=
NM_000531.6:c.541-56C= MANE Select NP_000522.3:n.541-56C=