Canonical Allele Identifier: CA2424884352

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408924G= , CM000685.2:g.38408924G=	GRCh38
NC_000023.10:g.38268177G= , CM000685.1:g.38268177G=	GRCh37
NC_000023.9:g.38153121G=	NCBI36
NG_008471.1:g.61442G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.766G= MANE Select	ENSP00000039007.4:p.Gly256=
ENST00000643344.1:c.*516G=	ENSP00000496606.1:n.*516G=
ENST00000039007.4:c.766G=	ENSP00000039007.4:p.Gly256=
ENST00000465127.1:c.172-257197G=	ENSP00000417050.1:n.172-257197G=
NM_000531.5:c.766G=	NP_000522.3:p.Gly256=
XM_017029556.1:c.766G=	XP_016885045.1:p.Gly256=
NM_000531.6:c.766G= MANE Select	NP_000522.3:p.Gly256=