Canonical Allele Identifier: CA224721
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97278
ClinVar RCV Id: RCV000083521
dbSNP Id: rs72558421
MyVariant Identifiers: chrX:g.38262973C>T (hg19) chrX:g.38403720C>T (hg38)
PubMed: PMID:11432394
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403720C>T , CM000685.2:g.38403720C>T GRCh38
NC_000023.10:g.38262973C>T , CM000685.1:g.38262973C>T GRCh37
NC_000023.9:g.38147917C>T NCBI36
NG_008471.1:g.56238C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.643C>T MANE Select ENSP00000039007.4:p.Leu215Phe
ENST00000643344.1:c.*393C>T ENSP00000496606.1:n.*393C>T
ENST00000039007.4:c.643C>T ENSP00000039007.4:p.Leu215Phe
ENST00000465127.1:c.172-262401C>T ENSP00000417050.1:n.172-262401C>T
NM_000531.5:c.643C>T NP_000522.3:p.Leu215Phe
XM_017029556.1:c.643C>T XP_016885045.1:p.Leu215Phe
NM_000531.6:c.643C>T MANE Select NP_000522.3:p.Leu215Phe
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