Canonical Allele Identifier: CA2424882749

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403729G= , CM000685.2:g.38403729G=	GRCh38
NC_000023.10:g.38262982G= , CM000685.1:g.38262982G=	GRCh37
NC_000023.9:g.38147926G=	NCBI36
NG_008471.1:g.56247G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.652G= MANE Select	ENSP00000039007.4:p.Ala218=
ENST00000643344.1:c.*402G=	ENSP00000496606.1:n.*402G=
ENST00000039007.4:c.652G=	ENSP00000039007.4:p.Ala218=
ENST00000465127.1:c.172-262392G=	ENSP00000417050.1:n.172-262392G=
NM_000531.5:c.652G=	NP_000522.3:p.Ala218=
XM_017029556.1:c.652G=	XP_016885045.1:p.Ala218=
NM_000531.6:c.652G= MANE Select	NP_000522.3:p.Ala218=