Canonical Allele Identifier: CA285807
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97255
dbSNP Id: rs67294955

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403660G>A , CM000685.2:g.38403660G>A GRCh38
NC_000023.10:g.38262913G>A , CM000685.1:g.38262913G>A GRCh37
NC_000023.9:g.38147857G>A NCBI36
NG_008471.1:g.56178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.583G>A MANE Select ENSP00000039007.4:p.Gly195Arg
ENST00000643344.1:c.*333G>A ENSP00000496606.1:n.*333G>A
ENST00000039007.4:c.583G>A ENSP00000039007.4:p.Gly195Arg
ENST00000465127.1:c.172-262461G>A ENSP00000417050.1:n.172-262461G>A
ENST00000488812.1:n.620G>A
NM_000531.5:c.583G>A NP_000522.3:p.Gly195Arg
XM_017029556.1:c.583G>A XP_016885045.1:p.Gly195Arg
NM_000531.6:c.583G>A MANE Select NP_000522.3:p.Gly195Arg