Canonical Allele Identifier: CA224593
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97194
ClinVar RCV Id: RCV000083429
dbSNP Id: rs72552298
MyVariant Identifiers: chrX:g.38211989del (hg19) chrX:g.38352736del (hg38)
PubMed: PMID:12974280
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38352738del , CM000685.2:g.38352738del GRCh38
NC_000023.10:g.38211991del , CM000685.1:g.38211991del GRCh37
NC_000023.9:g.38096935del NCBI36
NG_008471.1:g.5256del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.42del MANE Select ENSP00000039007.4:p.Phe14LeufsTer24
ENST00000643344.1:c.42del ENSP00000496606.1:p.Phe14LeufsTer24
ENST00000039007.4:c.42del ENSP00000039007.4:p.Phe14LeufsTer24
ENST00000465127.1:c.172-313383del ENSP00000417050.1:n.172-313383del
ENST00000488812.1:n.134del
NM_000531.5:c.42del NP_000522.3:p.Phe14LeufsTer24
XM_017029556.1:c.42del XP_016885045.1:p.Phe14LeufsTer24
NM_000531.6:c.42del MANE Select NP_000522.3:p.Phe14LeufsTer24
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