Canonical Allele Identifier: CA2424885225

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411917C= , CM000685.2:g.38411917C=	GRCh38
NC_000023.10:g.38271170C= , CM000685.1:g.38271170C=	GRCh37
NC_000023.9:g.38156114C=	NCBI36
NG_008471.1:g.64435C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.923C= MANE Select	ENSP00000039007.4:p.Pro308=
ENST00000643344.1:c.*673C=	ENSP00000496606.1:n.*673C=
ENST00000039007.4:c.923C=	ENSP00000039007.4:p.Pro308=
ENST00000465127.1:c.172-254204C=	ENSP00000417050.1:n.172-254204C=
NM_000531.5:c.923C=	NP_000522.3:p.Pro308=
NM_000531.6:c.923C= MANE Select	NP_000522.3:p.Pro308=