Canonical Allele Identifier: CA2424884349

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408919C= , CM000685.2:g.38408919C=	GRCh38
NC_000023.10:g.38268172C= , CM000685.1:g.38268172C=	GRCh37
NC_000023.9:g.38153116C=	NCBI36
NG_008471.1:g.61437C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.761C= MANE Select	ENSP00000039007.4:p.Ala254=
ENST00000643344.1:c.*511C=	ENSP00000496606.1:n.*511C=
ENST00000039007.4:c.761C=	ENSP00000039007.4:p.Ala254=
ENST00000465127.1:c.172-257202C=	ENSP00000417050.1:n.172-257202C=
NM_000531.5:c.761C=	NP_000522.3:p.Ala254=
XM_017029556.1:c.761C=	XP_016885045.1:p.Ala254=
NM_000531.6:c.761C= MANE Select	NP_000522.3:p.Ala254=