Canonical Allele Identifier: CA224584

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38352699G>A , CM000685.2:g.38352699G>A	GRCh38
NC_000023.10:g.38211952G>A , CM000685.1:g.38211952G>A	GRCh37
NC_000023.9:g.38096896G>A	NCBI36
NG_008471.1:g.5217G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.3G>A MANE Select	NP_000522.3:p.Met1Ile
ENST00000039007.5:c.3G>A MANE Select	ENSP00000039007.4:p.Met1Ile
NM_000531.5:c.3G>A	NP_000522.3:p.Met1Ile
ENST00000039007.4:c.3G>A	ENSP00000039007.4:p.Met1Ile
ENST00000465127.1:c.172-313422G>A	ENSP00000417050.1:n.172-313422G>A
ENST00000488812.1:n.95G>A
ENST00000643344.1:c.3G>A	ENSP00000496606.1:p.Met1Ile
XM_017029556.1:c.3G>A	XP_016885045.1:p.Met1Ile