Canonical Allele Identifier: CA2424885213

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411897A= , CM000685.2:g.38411897A=	GRCh38
NC_000023.10:g.38271150A= , CM000685.1:g.38271150A=	GRCh37
NC_000023.9:g.38156094A=	NCBI36
NG_008471.1:g.64415A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.903A= MANE Select	ENSP00000039007.4:p.Leu301=
ENST00000643344.1:c.*653A=	ENSP00000496606.1:n.*653A=
ENST00000039007.4:c.903A=	ENSP00000039007.4:p.Leu301=
ENST00000465127.1:c.172-254224A=	ENSP00000417050.1:n.172-254224A=
NM_000531.5:c.903A=	NP_000522.3:p.Leu301=
NM_000531.6:c.903A= MANE Select	NP_000522.3:p.Leu301=