Canonical Allele Identifier: CA2579584896

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411848C>G , CM000685.2:g.38411848C>G	GRCh38
NC_000023.10:g.38271101C>G , CM000685.1:g.38271101C>G	GRCh37
NC_000023.9:g.38156045C>G	NCBI36
NG_008471.1:g.64366C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.868-14C>G MANE Select	ENSP00000039007.4:n.868-14C>G
ENST00000643344.1:c.*618-14C>G	ENSP00000496606.1:n.*618-14C>G
ENST00000039007.4:c.868-14C>G	ENSP00000039007.4:n.868-14C>G
ENST00000465127.1:c.172-254273C>G	ENSP00000417050.1:n.172-254273C>G
NM_000531.5:c.868-14C>G	NP_000522.3:n.868-14C>G
XM_017029556.1:c.923C>G	XP_016885045.1:p.Ser308Cys
NM_000531.6:c.868-14C>G MANE Select	NP_000522.3:n.868-14C>G