Canonical Allele Identifier: CA515642392

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38409025G>A , CM000685.2:g.38409025G>A	GRCh38
NC_000023.10:g.38268278G>A , CM000685.1:g.38268278G>A	GRCh37
NC_000023.9:g.38153222G>A	NCBI36
NG_008471.1:g.61543G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.867G>A MANE Select	NP_000522.3:p.Lys289=
ENST00000039007.5:c.867G>A MANE Select	ENSP00000039007.4:p.Lys289=
NM_000531.5:c.867G>A	NP_000522.3:p.Lys289=
ENST00000039007.4:c.867G>A	ENSP00000039007.4:p.Lys289=
ENST00000465127.1:c.172-257096G>A	ENSP00000417050.1:n.172-257096G>A
ENST00000643344.1:c.*617G>A	ENSP00000496606.1:n.*617G>A
XM_017029556.1:c.867G>A	XP_016885045.1:p.Lys289=