Canonical Allele Identifier: CA224821
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97349
ClinVar RCV Id: RCV000083597
dbSNP Id: rs72558461
MyVariant Identifiers: chrX:g.38271140G>C (hg19) chrX:g.38411887G>C (hg38)
PubMed: PMID:15781198
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411887G>C , CM000685.2:g.38411887G>C GRCh38
NC_000023.10:g.38271140G>C , CM000685.1:g.38271140G>C GRCh37
NC_000023.9:g.38156084G>C NCBI36
NG_008471.1:g.64405G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.893G>C MANE Select ENSP00000039007.4:p.Trp298Ser
ENST00000643344.1:c.*643G>C ENSP00000496606.1:n.*643G>C
ENST00000039007.4:c.893G>C ENSP00000039007.4:p.Trp298Ser
ENST00000465127.1:c.172-254234G>C ENSP00000417050.1:n.172-254234G>C
NM_000531.5:c.893G>C NP_000522.3:p.Trp298Ser
NM_000531.6:c.893G>C MANE Select NP_000522.3:p.Trp298Ser
Search 100 bp 5'
Search 100 bp 3'