Canonical Allele Identifier: CA224741
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 11000
ClinVar RCV Id: RCV000011747 RCV000083536
dbSNP Id: rs67120076
gnomAD v4: X-38408752-C-T
MyVariant Identifiers: chrX:g.38268005C>T (hg19) chrX:g.38408752C>T (hg38)
PubMed: PMID:1721894 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408752C>T , CM000685.2:g.38408752C>T GRCh38
NC_000023.10:g.38268005C>T , CM000685.1:g.38268005C>T GRCh37
NC_000023.9:g.38152949C>T NCBI36
NG_008471.1:g.61270C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.674C>T MANE Select ENSP00000039007.4:p.Pro225Leu
ENST00000643344.1:c.*424C>T ENSP00000496606.1:n.*424C>T
ENST00000039007.4:c.674C>T ENSP00000039007.4:p.Pro225Leu
ENST00000465127.1:c.172-257369C>T ENSP00000417050.1:n.172-257369C>T
NM_000531.5:c.674C>T NP_000522.3:p.Pro225Leu
XM_017029556.1:c.674C>T XP_016885045.1:p.Pro225Leu
NM_000531.6:c.674C>T MANE Select NP_000522.3:p.Pro225Leu
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