Canonical Allele Identifier: CA224520
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 11001
dbSNP Id: rs72554338
COSMIC: COSM757306

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369838G>A , CM000685.2:g.38369838G>A GRCh38
NC_000023.10:g.38229091G>A , CM000685.1:g.38229091G>A GRCh37
NC_000023.9:g.38114035G>A NCBI36
NG_008471.1:g.22356G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.259G>A MANE Select ENSP00000039007.4:p.Glu87Lys
ENST00000643344.1:c.259G>A ENSP00000496606.1:p.Glu87Lys
ENST00000039007.4:c.259G>A ENSP00000039007.4:p.Glu87Lys
ENST00000465127.1:c.172-296283G>A ENSP00000417050.1:n.172-296283G>A
ENST00000488812.1:n.351G>A
NM_000531.5:c.259G>A NP_000522.3:p.Glu87Lys
XM_017029556.1:c.259G>A XP_016885045.1:p.Glu87Lys
NM_000531.6:c.259G>A MANE Select NP_000522.3:p.Glu87Lys