Nomenclature of Selected CYP3A5 Alleles

Common allele nameAlternative namesHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
CYP3A5*3 6981A>G NM_000777.5:c.219-237A>G Not applicable—variant occurs in a non-coding region rs776746
CYP3A5*6 14685G>ANM_000777.5:c.624G>ANP_000768.1:p.Lys208= (Alters mRNA splicing) rs10264272
CYP3A5*7 27126_27127insTNM_000777.5:c.1035dupNP_000768.1:p.Thr346fs rs41303343

CYP3A5*1 is the wild-type allele and is determined to be present with no variants are detected.

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting (76).

Guidelines for the description and nomenclature of gene variations are available from the Human Genome Variation Society (HGVS).

Nomenclature for Cytochrome P450 enzymes is available from the Pharmacogene Variation (PharmVar) Consortium; the authors defer to that authority with regards to any discrepancies in allele definitions.

From: Oxycodone Therapy and CYP2D6 Genotype

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Pratt VM, Scott SA, Pirmohamed M, et al., editors.
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