Canonical Allele Identifier: CA224796
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97331
ClinVar RCV Id: RCV000083578
dbSNP Id: rs72558447
COSMIC: COSM5436559
MyVariant Identifiers: chrX:g.38268206G>A (hg19) chrX:g.38408953G>A (hg38)
PubMed: PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408953G>A , CM000685.2:g.38408953G>A GRCh38
NC_000023.10:g.38268206G>A , CM000685.1:g.38268206G>A GRCh37
NC_000023.9:g.38153150G>A NCBI36
NG_008471.1:g.61471G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.795G>A MANE Select ENSP00000039007.4:p.Trp265Ter
ENST00000643344.1:c.*545G>A ENSP00000496606.1:n.*545G>A
ENST00000039007.4:c.795G>A ENSP00000039007.4:p.Trp265Ter
ENST00000465127.1:c.172-257168G>A ENSP00000417050.1:n.172-257168G>A
NM_000531.5:c.795G>A NP_000522.3:p.Trp265Ter
XM_017029556.1:c.795G>A XP_016885045.1:p.Trp265Ter
NM_000531.6:c.795G>A MANE Select NP_000522.3:p.Trp265Ter
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