Canonical Allele Identifier: CA224614
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97205
ClinVar RCV Id: RCV000083443 RCV002514460
dbSNP Id: rs72556264
MyVariant Identifiers: chrX:g.38260590del (hg19) chrX:g.38401337del (hg38)
PubMed: PMID:11793468
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401339del , CM000685.2:g.38401339del GRCh38
NC_000023.10:g.38260592del , CM000685.1:g.38260592del GRCh37
NC_000023.9:g.38145536del NCBI36
NG_008471.1:g.53857del

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.451del MANE Select ENSP00000039007.4:p.Leu151TrpfsTer?
ENST00000643344.1:c.*201del ENSP00000496606.1:n.*201del
ENST00000039007.4:c.451del ENSP00000039007.4:p.Leu151TrpfsTer?
ENST00000465127.1:c.172-264782del ENSP00000417050.1:n.172-264782del
ENST00000488812.1:n.488del
NM_000531.5:c.451del NP_000522.3:p.Leu151TrpfsTer?
XM_017029556.1:c.451del XP_016885045.1:p.Leu151TrpfsTer?
NM_000531.6:c.451del MANE Select NP_000522.3:p.Leu151TrpfsTer?
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