Canonical Allele Identifier: CA2424884336

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408883C= , CM000685.2:g.38408883C=	GRCh38
NC_000023.10:g.38268136C= , CM000685.1:g.38268136C=	GRCh37
NC_000023.9:g.38153080C=	NCBI36
NG_008471.1:g.61401C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.725C= MANE Select	ENSP00000039007.4:p.Thr242=
ENST00000643344.1:c.*475C=	ENSP00000496606.1:n.*475C=
ENST00000039007.4:c.725C=	ENSP00000039007.4:p.Thr242=
ENST00000465127.1:c.172-257238C=	ENSP00000417050.1:n.172-257238C=
NM_000531.5:c.725C=	NP_000522.3:p.Thr242=
XM_017029556.1:c.725C=	XP_016885045.1:p.Thr242=
NM_000531.6:c.725C= MANE Select	NP_000522.3:p.Thr242=