Canonical Allele Identifier: CA2424884378

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408977G= , CM000685.2:g.38408977G=	GRCh38
NC_000023.10:g.38268230G= , CM000685.1:g.38268230G=	GRCh37
NC_000023.9:g.38153174G=	NCBI36
NG_008471.1:g.61495G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.819G= MANE Select	ENSP00000039007.4:p.Glu273=
ENST00000643344.1:c.*569G=	ENSP00000496606.1:n.*569G=
ENST00000039007.4:c.819G=	ENSP00000039007.4:p.Glu273=
ENST00000465127.1:c.172-257144G=	ENSP00000417050.1:n.172-257144G=
NM_000531.5:c.819G=	NP_000522.3:p.Glu273=
XM_017029556.1:c.819G=	XP_016885045.1:p.Glu273=
NM_000531.6:c.819G= MANE Select	NP_000522.3:p.Glu273=