Canonical Allele Identifier: CA2424885212

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411890C= , CM000685.2:g.38411890C=	GRCh38
NC_000023.10:g.38271143C= , CM000685.1:g.38271143C=	GRCh37
NC_000023.9:g.38156087C=	NCBI36
NG_008471.1:g.64408C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.896C= MANE Select	ENSP00000039007.4:p.Thr299=
ENST00000643344.1:c.*646C=	ENSP00000496606.1:n.*646C=
ENST00000039007.4:c.896C=	ENSP00000039007.4:p.Thr299=
ENST00000465127.1:c.172-254231C=	ENSP00000417050.1:n.172-254231C=
NM_000531.5:c.896C=	NP_000522.3:p.Thr299=
NM_000531.6:c.896C= MANE Select	NP_000522.3:p.Thr299=