Canonical Allele Identifier: CA224706
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97268
ClinVar RCV Id: RCV000083510
dbSNP Id: rs72558409
MyVariant Identifiers: chrX:g.38262935A>C (hg19) chrX:g.38403682A>C (hg38)
PubMed: PMID:9501271
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403682A>C , CM000685.2:g.38403682A>C GRCh38
NC_000023.10:g.38262935A>C , CM000685.1:g.38262935A>C GRCh37
NC_000023.9:g.38147879A>C NCBI36
NG_008471.1:g.56200A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.605A>C MANE Select ENSP00000039007.4:p.His202Pro
ENST00000643344.1:c.*355A>C ENSP00000496606.1:n.*355A>C
ENST00000039007.4:c.605A>C ENSP00000039007.4:p.His202Pro
ENST00000465127.1:c.172-262439A>C ENSP00000417050.1:n.172-262439A>C
NM_000531.5:c.605A>C NP_000522.3:p.His202Pro
XM_017029556.1:c.605A>C XP_016885045.1:p.His202Pro
NM_000531.6:c.605A>C MANE Select NP_000522.3:p.His202Pro
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