Canonical Allele Identifier: CA2579584768

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38381317T>A , CM000685.2:g.38381317T>A	GRCh38
NC_000023.10:g.38240570T>A , CM000685.1:g.38240570T>A	GRCh37
NC_000023.9:g.38125514T>A	NCBI36
NG_008471.1:g.33835T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.299-25T>A MANE Select	ENSP00000039007.4:n.299-25T>A
ENST00000643344.1:c.*49-25T>A	ENSP00000496606.1:n.*49-25T>A
ENST00000039007.4:c.299-25T>A	ENSP00000039007.4:n.299-25T>A
ENST00000465127.1:c.172-284804T>A	ENSP00000417050.1:n.172-284804T>A
ENST00000488812.1:n.354-43T>A
NM_000531.5:c.299-25T>A	NP_000522.3:n.299-25T>A
XM_017029556.1:c.299-25T>A	XP_016885045.1:n.299-25T>A
NM_000531.6:c.299-25T>A MANE Select	NP_000522.3:n.299-25T>A