Canonical Allele Identifier: CA224587
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97191
ClinVar RCV Id: RCV000083426
dbSNP Id: rs72556256
gnomAD v4: X-38401292-C-A
MyVariant Identifiers: chrX:g.38260545C>A (hg19) chrX:g.38401292C>A (hg38)
PubMed: PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401292C>A , CM000685.2:g.38401292C>A GRCh38
NC_000023.10:g.38260545C>A , CM000685.1:g.38260545C>A GRCh37
NC_000023.9:g.38145489C>A NCBI36
NG_008471.1:g.53810C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.404C>A MANE Select ENSP00000039007.4:p.Ala135Glu
ENST00000643344.1:c.*154C>A ENSP00000496606.1:n.*154C>A
ENST00000039007.4:c.404C>A ENSP00000039007.4:p.Ala135Glu
ENST00000465127.1:c.172-264829C>A ENSP00000417050.1:n.172-264829C>A
ENST00000488812.1:n.441C>A
NM_000531.5:c.404C>A NP_000522.3:p.Ala135Glu
XM_017029556.1:c.404C>A XP_016885045.1:p.Ala135Glu
NM_000531.6:c.404C>A MANE Select NP_000522.3:p.Ala135Glu
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