Canonical Allele Identifier: CA2424870777
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367251C>A , CM000685.2:g.38367251C>A GRCh38
NC_000023.10:g.38226504C>A , CM000685.1:g.38226504C>A GRCh37
NC_000023.9:g.38111448C>A NCBI36
NG_008471.1:g.19769C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-40C>A MANE Select ENSP00000039007.4:n.78-40C>A
ENST00000643344.1:c.78-40C>A ENSP00000496606.1:n.78-40C>A
ENST00000039007.4:c.78-40C>A ENSP00000039007.4:n.78-40C>A
ENST00000465127.1:c.172-298870C>A ENSP00000417050.1:n.172-298870C>A
ENST00000488812.1:n.170-40C>A
NM_000531.5:c.78-40C>A NP_000522.3:n.78-40C>A
XM_017029556.1:c.78-40C>A XP_016885045.1:n.78-40C>A
NM_000531.6:c.78-40C>A MANE Select NP_000522.3:n.78-40C>A