Canonical Allele Identifier: CA224558
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97170
ClinVar RCV Id: RCV000083403
dbSNP Id: rs72554353
MyVariant Identifiers: chrX:g.38240623del (hg19) chrX:g.38381370del (hg38)
PubMed: PMID:9452049
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381373del , CM000685.2:g.38381373del GRCh38
NC_000023.10:g.38240626del , CM000685.1:g.38240626del GRCh37
NC_000023.9:g.38125570del NCBI36
NG_008471.1:g.33891del

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.330del MANE Select ENSP00000039007.4:p.Thr112ProfsTer9
ENST00000643344.1:c.*80del ENSP00000496606.1:n.*80del
ENST00000039007.4:c.330del ENSP00000039007.4:p.Thr112ProfsTer9
ENST00000465127.1:c.172-284748del ENSP00000417050.1:n.172-284748del
ENST00000488812.1:n.367del
NM_000531.5:c.330del NP_000522.3:p.Thr112ProfsTer9
XM_017029556.1:c.330del XP_016885045.1:p.Thr112ProfsTer9
NM_000531.6:c.330del MANE Select NP_000522.3:p.Thr112ProfsTer9
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