Canonical Allele Identifier: CA224852
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97368
ClinVar RCV Id: RCV000083617
dbSNP Id: rs72558471
MyVariant Identifiers: chrX:g.38271194T>C (hg19) chrX:g.38411941T>C (hg38)
PubMed: PMID:11793468
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411941T>C , CM000685.2:g.38411941T>C GRCh38
NC_000023.10:g.38271194T>C , CM000685.1:g.38271194T>C GRCh37
NC_000023.9:g.38156138T>C NCBI36
NG_008471.1:g.64459T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.947T>C MANE Select ENSP00000039007.4:p.Phe316Ser
ENST00000643344.1:c.*697T>C ENSP00000496606.1:n.*697T>C
ENST00000039007.4:c.947T>C ENSP00000039007.4:p.Phe316Ser
ENST00000465127.1:c.172-254180T>C ENSP00000417050.1:n.172-254180T>C
NM_000531.5:c.947T>C NP_000522.3:p.Phe316Ser
NM_000531.6:c.947T>C MANE Select NP_000522.3:p.Phe316Ser
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