Canonical Allele Identifier: CA2424870835

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367389T= , CM000685.2:g.38367389T=	GRCh38
NC_000023.10:g.38226642T= , CM000685.1:g.38226642T=	GRCh37
NC_000023.9:g.38111586T=	NCBI36
NG_008471.1:g.19907T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.176T= MANE Select	ENSP00000039007.4:p.Leu59=
ENST00000643344.1:c.176T=	ENSP00000496606.1:p.Leu59=
ENST00000039007.4:c.176T=	ENSP00000039007.4:p.Leu59=
ENST00000465127.1:c.172-298732T=	ENSP00000417050.1:n.172-298732T=
ENST00000488812.1:n.268T=
NM_000531.5:c.176T=	NP_000522.3:p.Leu59=
XM_017029556.1:c.176T=	XP_016885045.1:p.Leu59=
NM_000531.6:c.176T= MANE Select	NP_000522.3:p.Leu59=