Canonical Allele Identifier: CA224450
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97104
ClinVar RCV Id: RCV000083329 RCV001095686
dbSNP Id: rs72558495
gnomAD v2: X-38280331-T-G
gnomAD v3: X-38421078-T-G
gnomAD v4: X-38421078-T-G
MyVariant Identifiers: chrX:g.38280331T>G (hg19) chrX:g.38421078T>G (hg38)
PubMed: PMID:8857803
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421078T>G , CM000685.2:g.38421078T>G GRCh38
NC_000023.10:g.38280331T>G , CM000685.1:g.38280331T>G GRCh37
NC_000023.9:g.38165275T>G NCBI36
NG_008471.1:g.73596T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.1061T>G MANE Select ENSP00000039007.4:p.Phe354Cys
ENST00000039007.4:c.1061T>G ENSP00000039007.4:p.Phe354Cys
ENST00000465127.1:c.172-245043T>G ENSP00000417050.1:n.172-245043T>G
NM_000531.5:c.1061T>G NP_000522.3:p.Phe354Cys
NM_000531.6:c.1061T>G MANE Select NP_000522.3:p.Phe354Cys
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