Canonical Allele Identifier: CA224663
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97234
ClinVar RCV Id: RCV000083474
dbSNP Id: rs72556282
COSMIC: COSM5459508
MyVariant Identifiers: chrX:g.38260667T>C (hg19) chrX:g.38401414T>C (hg38)
PubMed: PMID:11793468
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401414T>C , CM000685.2:g.38401414T>C GRCh38
NC_000023.10:g.38260667T>C , CM000685.1:g.38260667T>C GRCh37
NC_000023.9:g.38145611T>C NCBI36
NG_008471.1:g.53932T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.526T>C MANE Select ENSP00000039007.4:p.Tyr176His
ENST00000643344.1:c.*276T>C ENSP00000496606.1:n.*276T>C
ENST00000039007.4:c.526T>C ENSP00000039007.4:p.Tyr176His
ENST00000465127.1:c.172-264707T>C ENSP00000417050.1:n.172-264707T>C
ENST00000488812.1:n.563T>C
NM_000531.5:c.526T>C NP_000522.3:p.Tyr176His
XM_017029556.1:c.526T>C XP_016885045.1:p.Tyr176His
NM_000531.6:c.526T>C MANE Select NP_000522.3:p.Tyr176His
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