Canonical Allele Identifier: CA2424882720

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403679T= , CM000685.2:g.38403679T=	GRCh38
NC_000023.10:g.38262932T= , CM000685.1:g.38262932T=	GRCh37
NC_000023.9:g.38147876T=	NCBI36
NG_008471.1:g.56197T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.602T= MANE Select	ENSP00000039007.4:p.Leu201=
ENST00000643344.1:c.*352T=	ENSP00000496606.1:n.*352T=
ENST00000039007.4:c.602T=	ENSP00000039007.4:p.Leu201=
ENST00000465127.1:c.172-262442T=	ENSP00000417050.1:n.172-262442T=
NM_000531.5:c.602T=	NP_000522.3:p.Leu201=
XM_017029556.1:c.602T=	XP_016885045.1:p.Leu201=
NM_000531.6:c.602T= MANE Select	NP_000522.3:p.Leu201=