Canonical Allele Identifier: CA224688
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97254
ClinVar RCV Id: RCV000083496
dbSNP Id: rs72556299
MyVariant Identifiers: chrX:g.38262908G>A (hg19) chrX:g.38403655G>A (hg38)
PubMed: PMID:9452024
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403655G>A , CM000685.2:g.38403655G>A GRCh38
NC_000023.10:g.38262908G>A , CM000685.1:g.38262908G>A GRCh37
NC_000023.9:g.38147852G>A NCBI36
NG_008471.1:g.56173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.578G>A MANE Select ENSP00000039007.4:p.Trp193Ter
ENST00000643344.1:c.*328G>A ENSP00000496606.1:n.*328G>A
ENST00000039007.4:c.578G>A ENSP00000039007.4:p.Trp193Ter
ENST00000465127.1:c.172-262466G>A ENSP00000417050.1:n.172-262466G>A
ENST00000488812.1:n.615G>A
NM_000531.5:c.578G>A NP_000522.3:p.Trp193Ter
XM_017029556.1:c.578G>A XP_016885045.1:p.Trp193Ter
NM_000531.6:c.578G>A MANE Select NP_000522.3:p.Trp193Ter
Search 100 bp 5'
Search 100 bp 3'