Canonical Allele Identifier: CA2424875281

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381403G= , CM000685.2:g.38381403G=	GRCh38
NC_000023.10:g.38240656G= , CM000685.1:g.38240656G=	GRCh37
NC_000023.9:g.38125600G=	NCBI36
NG_008471.1:g.33921G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.360G= MANE Select	ENSP00000039007.4:p.Val120=
ENST00000643344.1:c.*110G=	ENSP00000496606.1:n.*110G=
ENST00000039007.4:c.360G=	ENSP00000039007.4:p.Val120=
ENST00000465127.1:c.172-284718G=	ENSP00000417050.1:n.172-284718G=
ENST00000488812.1:n.397G=
NM_000531.5:c.360G=	NP_000522.3:p.Val120=
XM_017029556.1:c.360G=	XP_016885045.1:p.Val120=
NM_000531.6:c.360G= MANE Select	NP_000522.3:p.Val120=