Canonical Allele Identifier: CA224679
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97247
ClinVar RCV Id: RCV000083488 RCV001854460
dbSNP Id: rs72556293
COSMIC: COSM4943622
MyVariant Identifiers: chrX:g.38262878A>G (hg19) chrX:g.38403625A>G (hg38)
PubMed: PMID:8260194
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403625A>G , CM000685.2:g.38403625A>G GRCh38
NC_000023.10:g.38262878A>G , CM000685.1:g.38262878A>G GRCh37
NC_000023.9:g.38147822A>G NCBI36
NG_008471.1:g.56143A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.548A>G MANE Select ENSP00000039007.4:p.Tyr183Cys
ENST00000643344.1:c.*298A>G ENSP00000496606.1:n.*298A>G
ENST00000039007.4:c.548A>G ENSP00000039007.4:p.Tyr183Cys
ENST00000465127.1:c.172-262496A>G ENSP00000417050.1:n.172-262496A>G
ENST00000488812.1:n.585A>G
NM_000531.5:c.548A>G NP_000522.3:p.Tyr183Cys
XM_017029556.1:c.548A>G XP_016885045.1:p.Tyr183Cys
NM_000531.6:c.548A>G MANE Select NP_000522.3:p.Tyr183Cys
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