Canonical Allele Identifier: CA2424885206

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411879C= , CM000685.2:g.38411879C=	GRCh38
NC_000023.10:g.38271132C= , CM000685.1:g.38271132C=	GRCh37
NC_000023.9:g.38156076C=	NCBI36
NG_008471.1:g.64397C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.885C= MANE Select	ENSP00000039007.4:p.Ala295=
ENST00000643344.1:c.*635C=	ENSP00000496606.1:n.*635C=
ENST00000039007.4:c.885C=	ENSP00000039007.4:p.Ala295=
ENST00000465127.1:c.172-254242C=	ENSP00000417050.1:n.172-254242C=
NM_000531.5:c.885C=	NP_000522.3:p.Ala295=
XM_017029556.1:c.*18C=	XP_016885045.1:n.*18C=
NM_000531.6:c.885C= MANE Select	NP_000522.3:p.Ala295=