Canonical Allele Identifier: CA2424884373

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408966C= , CM000685.2:g.38408966C=	GRCh38
NC_000023.10:g.38268219C= , CM000685.1:g.38268219C=	GRCh37
NC_000023.9:g.38153163C=	NCBI36
NG_008471.1:g.61484C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.808C= MANE Select	ENSP00000039007.4:p.Gln270=
ENST00000643344.1:c.*558C=	ENSP00000496606.1:n.*558C=
ENST00000039007.4:c.808C=	ENSP00000039007.4:p.Gln270=
ENST00000465127.1:c.172-257155C=	ENSP00000417050.1:n.172-257155C=
NM_000531.5:c.808C=	NP_000522.3:p.Gln270=
XM_017029556.1:c.808C=	XP_016885045.1:p.Gln270=
NM_000531.6:c.808C= MANE Select	NP_000522.3:p.Gln270=