Canonical Allele Identifier: CA224668
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97237
ClinVar RCV Id: RCV000083477 RCV001262181
dbSNP Id: rs72556284
COSMIC: COSM3424786
MyVariant Identifiers: chrX:g.38260674C>T (hg19) chrX:g.38401421C>T (hg38)
PubMed: PMID:7860066
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401421C>T , CM000685.2:g.38401421C>T GRCh38
NC_000023.10:g.38260674C>T , CM000685.1:g.38260674C>T GRCh37
NC_000023.9:g.38145618C>T NCBI36
NG_008471.1:g.53939C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.533C>T MANE Select ENSP00000039007.4:p.Thr178Met
ENST00000643344.1:c.*283C>T ENSP00000496606.1:n.*283C>T
ENST00000039007.4:c.533C>T ENSP00000039007.4:p.Thr178Met
ENST00000465127.1:c.172-264700C>T ENSP00000417050.1:n.172-264700C>T
ENST00000488812.1:n.570C>T
NM_000531.5:c.533C>T NP_000522.3:p.Thr178Met
XM_017029556.1:c.533C>T XP_016885045.1:p.Thr178Met
NM_000531.6:c.533C>T MANE Select NP_000522.3:p.Thr178Met
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