Among 71 (9.18%) Chinese families and 47 (7.34%) sporadic individuals with ET, we identified 15 types of protein-altering variants in solute carrier family 38 member 6 (SLC38A6), which encodes sodium-coupled neutral amino acid transporter 6 (SNAT6) and is inherited in an autosomal dominant pattern. The gene discussed is SLC38A6; the disease is essential thrombocythemia.