Canonical Allele Identifier: CA2424871795
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38370174C= , CM000685.2:g.38370174C= GRCh38
NC_000023.10:g.38229427C= , CM000685.1:g.38229427C= GRCh37
NC_000023.9:g.38114371C= NCBI36
NG_008471.1:g.22692C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+297C= MANE Select ENSP00000039007.4:n.298+297C=
ENST00000643344.1:c.298+297C= ENSP00000496606.1:n.298+297C=
ENST00000039007.4:c.298+297C= ENSP00000039007.4:n.298+297C=
ENST00000465127.1:c.172-295947C= ENSP00000417050.1:n.172-295947C=
ENST00000488812.1:n.353+334C=
NM_000531.5:c.298+297C= NP_000522.3:n.298+297C=
XM_017029556.1:c.298+297C= XP_016885045.1:n.298+297C=
NM_000531.6:c.298+297C= MANE Select NP_000522.3:n.298+297C=