Canonical Allele Identifier: CA2424882703

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403654T= , CM000685.2:g.38403654T=	GRCh38
NC_000023.10:g.38262907T= , CM000685.1:g.38262907T=	GRCh37
NC_000023.9:g.38147851T=	NCBI36
NG_008471.1:g.56172T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.577T= MANE Select	ENSP00000039007.4:p.Trp193=
ENST00000643344.1:c.*327T=	ENSP00000496606.1:n.*327T=
ENST00000039007.4:c.577T=	ENSP00000039007.4:p.Trp193=
ENST00000465127.1:c.172-262467T=	ENSP00000417050.1:n.172-262467T=
ENST00000488812.1:n.614T=
NM_000531.5:c.577T=	NP_000522.3:p.Trp193=
XM_017029556.1:c.577T=	XP_016885045.1:p.Trp193=
NM_000531.6:c.577T= MANE Select	NP_000522.3:p.Trp193=