Canonical Allele Identifier: CA2424871667

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369823T= , CM000685.2:g.38369823T=	GRCh38
NC_000023.10:g.38229076T= , CM000685.1:g.38229076T=	GRCh37
NC_000023.9:g.38114020T=	NCBI36
NG_008471.1:g.22341T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.244T= MANE Select	ENSP00000039007.4:p.Leu82=
ENST00000643344.1:c.244T=	ENSP00000496606.1:p.Leu82=
ENST00000039007.4:c.244T=	ENSP00000039007.4:p.Leu82=
ENST00000465127.1:c.172-296298T=	ENSP00000417050.1:n.172-296298T=
ENST00000488812.1:n.336T=
NM_000531.5:c.244T=	NP_000522.3:p.Leu82=
XM_017029556.1:c.244T=	XP_016885045.1:p.Leu82=
NM_000531.6:c.244T= MANE Select	NP_000522.3:p.Leu82=