Canonical Allele Identifier: CA2695233311

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403341A>G , CM000685.2:g.38403341A>G	GRCh38
NC_000023.10:g.38262594A>G , CM000685.1:g.38262594A>G	GRCh37
NC_000023.9:g.38147538A>G	NCBI36
NG_008471.1:g.55859A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.541-277A>G MANE Select	ENSP00000039007.4:n.541-277A>G
ENST00000643344.1:c.*291-277A>G	ENSP00000496606.1:n.*291-277A>G
ENST00000039007.4:c.541-277A>G	ENSP00000039007.4:n.541-277A>G
ENST00000465127.1:c.172-262780A>G	ENSP00000417050.1:n.172-262780A>G
ENST00000488812.1:n.578-277A>G
NM_000531.5:c.541-277A>G	NP_000522.3:n.541-277A>G
XM_017029556.1:c.541-277A>G	XP_016885045.1:n.541-277A>G
NM_000531.6:c.541-277A>G MANE Select	NP_000522.3:n.541-277A>G