Canonical Allele Identifier: CA224446
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97102
ClinVar RCV Id: RCV000083327
dbSNP Id: rs72558493
MyVariant Identifiers: chrX:g.38280309C>A (hg19) chrX:g.38421056C>A (hg38)
PubMed: PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421056C>A , CM000685.2:g.38421056C>A GRCh38
NC_000023.10:g.38280309C>A , CM000685.1:g.38280309C>A GRCh37
NC_000023.9:g.38165253C>A NCBI36
NG_008471.1:g.73574C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.1039C>A MANE Select ENSP00000039007.4:p.Pro347Thr
ENST00000643344.1:c.*789C>A ENSP00000496606.1:n.*789C>A
ENST00000039007.4:c.1039C>A ENSP00000039007.4:p.Pro347Thr
ENST00000465127.1:c.172-245065C>A ENSP00000417050.1:n.172-245065C>A
NM_000531.5:c.1039C>A NP_000522.3:p.Pro347Thr
NM_000531.6:c.1039C>A MANE Select NP_000522.3:p.Pro347Thr
Search 100 bp 5'
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