Canonical Allele Identifier: CA2424871807
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38370203T= , CM000685.2:g.38370203T= GRCh38
NC_000023.10:g.38229456T= , CM000685.1:g.38229456T= GRCh37
NC_000023.9:g.38114400T= NCBI36
NG_008471.1:g.22721T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+326T= MANE Select ENSP00000039007.4:n.298+326T=
ENST00000643344.1:c.298+326T= ENSP00000496606.1:n.298+326T=
ENST00000039007.4:c.298+326T= ENSP00000039007.4:n.298+326T=
ENST00000465127.1:c.172-295918T= ENSP00000417050.1:n.172-295918T=
ENST00000488812.1:n.353+363T=
NM_000531.5:c.298+326T= NP_000522.3:n.298+326T=
XM_017029556.1:c.298+326T= XP_016885045.1:n.298+326T=
NM_000531.6:c.298+326T= MANE Select NP_000522.3:n.298+326T=