Canonical Allele Identifier: CA224694
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97259
ClinVar RCV Id: RCV000083501
dbSNP Id: rs72556300
MyVariant Identifiers: chrX:g.38262917A>T (hg19) chrX:g.38403664A>T (hg38)
PubMed: PMID:8365726
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403664A>T , CM000685.2:g.38403664A>T GRCh38
NC_000023.10:g.38262917A>T , CM000685.1:g.38262917A>T GRCh37
NC_000023.9:g.38147861A>T NCBI36
NG_008471.1:g.56182A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.587A>T MANE Select ENSP00000039007.4:p.Asp196Val
ENST00000643344.1:c.*337A>T ENSP00000496606.1:n.*337A>T
ENST00000039007.4:c.587A>T ENSP00000039007.4:p.Asp196Val
ENST00000465127.1:c.172-262457A>T ENSP00000417050.1:n.172-262457A>T
ENST00000488812.1:n.624A>T
NM_000531.5:c.587A>T NP_000522.3:p.Asp196Val
XM_017029556.1:c.587A>T XP_016885045.1:p.Asp196Val
NM_000531.6:c.587A>T MANE Select NP_000522.3:p.Asp196Val
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