Canonical Allele Identifier: CA224600

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401310G>A , CM000685.2:g.38401310G>A	GRCh38
NC_000023.10:g.38260563G>A , CM000685.1:g.38260563G>A	GRCh37
NC_000023.9:g.38145507G>A	NCBI36
NG_008471.1:g.53828G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.422G>A MANE Select	NP_000522.3:p.Arg141Gln
ENST00000039007.5:c.422G>A MANE Select	ENSP00000039007.4:p.Arg141Gln
NM_000531.5:c.422G>A	NP_000522.3:p.Arg141Gln
ENST00000039007.4:c.422G>A	ENSP00000039007.4:p.Arg141Gln
ENST00000465127.1:c.172-264811G>A	ENSP00000417050.1:n.172-264811G>A
ENST00000488812.1:n.459G>A
ENST00000643344.1:c.*172G>A	ENSP00000496606.1:n.*172G>A
XM_017029556.1:c.422G>A	XP_016885045.1:p.Arg141Gln